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1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
학술저널
issue
In
Genetics in Medicine
February 2024 26(2)
Author
Borras, Silvia
Clark, Caroline
Dean, John
Miedzybrodzka, Zosia
Ross, Alison
Tennant, Stephen
Dabir, Tabib
Donnelly, Deirdre
Humphreys, Mervyn
Magee, Alex
McConnell, Vivienne
McKee, Shane
McNerlan, Susan
Morrison, Patrick J.
Rea, Gillian
Stewart, Fiona
Cole, Trevor
Cooper, Nicola
Cooper-Charles, Lisa
Cox, Helen
Islam, Lily
Jarvis, Joanna
Keelagher, Rebecca
Lim, Derek
McMullan, Dominic
Morton, Jenny
Naik, Swati
O’Driscoll, Mary
Ong, Kai-Ren
Osio, Deborah
Ragge, Nicola
Turton, Sarah
Vogt, Julie
Williams, Denise
Bodek, Simon
Donaldson, Alan
Hills, Alison
Low, Karen
Newbury-Ecob, Ruth
Norman, Andrew M.
Roberts, Eileen
Scurr, Ingrid
Smithson, Sarah
Tooley, Madeleine
Abbs, Steve
Armstrong, Ruth
Dunn, Carolyn
Holden, Simon
Park, Soo-Mi
Paterson, Joan
Raymond, Lucy
Reid, Evan
Sandford, Richard
Simonic, Ingrid
Tischkowitz, Marc
Woods, Geoff
Bradley, Lisa
Comerford, Joanne
Green, Andrew
Lynch, Sally
McQuaid, Shirley
Mullaney, Brendan
Berg, Jonathan
Goudie, David
Mavrak, Eleni
McLean, Joanne
McWilliam, Catherine
Reavey, Eleanor
Azam, Tara
Cleary, Elaine
Jackson, Andrew
Lam, Wayne
Lampe, Anne
Moore, David
Porteous, Mary
Baple, Emma
Baptista, Júlia
Brewer, Carole
Castle, Bruce
Kivuva, Emma
Owens, Martina
Rankin, Julia
Shaw-Smith, Charles
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Bradley, Therese
Davidson, Rosemarie
Gardiner, Carol
Joss, Shelagh
Kinning, Esther
Longman, Cheryl
McGowan, Ruth
Murday, Victoria
Pilz, Daniela
Tobias, Edward
Whiteford, Margo
Williams, Nicola
Barnicoat, Angela
Clement, Emma
Faravelli, Francesca
Hurst, Jane
Jenkins, Lucy
Jones, Wendy
Ajith Kumar, V.K.
Lees, Melissa
Loughlin, Sam
Male, Alison
Morrogh, Deborah
Rosser, Elisabeth
Scott, Richard
Wilson, Louise
Beleza, Ana
Deshpande, Charu
Flinter, Frances
Holder, Muriel
Irving, Melita
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Molenda, Aneta
Robert, Leema
Roworth, Wendy
Ruddy, Deborah
Ryten, Mina
Yau, Shu
Bennett, Christopher
Blyth, Moira
Campbell, Jennifer
Coates, Andrea
Dobbie, Angus
Hewitt, Sarah
Hobson, Emma
Jackson, Eilidh
Jewell, Rosalyn
Kraus, Alison
Prescott, Katrina
Sheridan, Eamonn
Thomson, Jenny
Bradshaw, Kirsty
Dixit, Abhijit
Eason, Jacqueline
Haines, Rebecca
Harrison, Rachel
Mutch, Stacey
Sarkar, Ajoy
Searle, Claire
Shannon, Nora
Sharif, Abid
Suri, Mohnish
Vasudevan, Pradeep
Canham, Natalie
Ellis, Ian
Greenhalgh, Lynn
Howard, Emma
Stinton, Victoria
Swale, Andrew
Weber, Astrid
Banka, Siddharth
Breen, Catherine
Briggs, Tracy
Burkitt-Wright, Emma
Chandler, Kate
Clayton-Smith, Jill
Donnai, Dian
Douzgou, Sofia
Gaunt, Lorraine
Jones, Elizabeth
Kerr, Bronwyn
Langley, Claire
Metcalfe, Kay
Smith, Audrey
Wright, Ronnie
Bourn, David
Burn, John
Fisher, Richard
Hellens, Steve
Henderson, Alex
Montgomery, Tara
Splitt, Miranda
Straub, Volker
Wright, Michael
Zwolinski, Simon
Allen, Zoe
Bernhard, Birgitta
Brady, Angela
Brooks, Claire
Busby, Louise
Clowes, Virginia
Ghali, Neeti
Holder, Susan
Ibitoye, Rita
Wakeling, Emma
Blair, Edward
Carmichael, Jenny
Cilliers, Deirdre
Clasper, Susan
Gibbons, Richard
Kini, Usha
Lester, Tracy
Nemeth, Andrea
Poulton, Joanna
Price, Sue
Shears, Debbie
Stewart, Helen
Wilkie, Andrew
Albaba, Shadi
Baker, Duncan
Balasubramanian, Meena
Johnson, Diana
Parker, Michael
Quarrell, Oliver
Stewart, Alison
Willoughby, Josh
Crosby, Charlene
Elmslie, Frances
Homfray, Tessa
Jin, Huilin
Lahiri, Nayana
Mansour, Sahar
Marks, Karen
McEntagart, Meriel
Saggar, Anand
Tatton-Brown, Kate
Butler, Rachel
Clarke, Angus
Corrin, Sian
Fry, Andrew
Kamath, Arveen
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Mugalaasi, Hood
Pottinger, Caroline
Procter, Annie
Sampson, Julian
Sansbury, Francis
Varghese, Vinod
Baralle, Diana
Callaway, Alison
Cassidy, Emma J.
Daniels, Stacey
Douglas, Andrew
Foulds, Nicola
Hunt, David
Kharbanda, Mira
Lachlan, Katherine
Mercer, Catherine
Side, Lucy
Temple, I. Karen
Wellesley, Diana
Ambrose, J.C.
Arumugam, P.
Baple, E.L.
Bleda, M.
Boardman-Pretty,
F
.
Boissiere, J.M.
Boustred, C.R.
Caulfield, M.J.
Chan, G.C.
Craig, C.E.H.
Daugherty, L.C.
de Burca, A.
Devereau, A.
Elgar, G.
Foulger, R.E.
Fowler, T.
FurióTarí, P.
Hackett, J.M.
Halai, D.
Hamblin, A.
Henderson, S.
Holman, J.E.
Hubbard, T.J.P.
Ibáñez, K.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Lahnstein, L.
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F
.J.
MaleadyCrowe,
F
.
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Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Polychronopoulos, D.
Pullinger, J.
Rahim, T.
Rendon, A.
Riesgo-Ferreiro, P.
Rogers, T.
Ryten, M.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smedley, D.
Smith, K.R.
Sosinsky, A.
Spooner, W.
Stevens, H.E.
Stuckey, A.
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Thomas, E.R.A.
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Tucci, A.
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Adam, Margaret
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Agrawal, Pankaj B.
Alejandro, Mercedes E.
Alvey, Justin
Amendola, Laura
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Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
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Brokamp, Elly
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Burke, Elizabeth A.
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Butte, Manish J.
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Carrasquillo, Olveen
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Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
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Cogan, Joy D.
Coggins, Matthew
Cole,
F
. Sessions
Colley, Heather A.
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Craigen, William J.
Crouse, Andrew B.
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D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
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Dayal, Jyoti G.
Deardorff, Matthew
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Douine, Emilie D.
Draper, David D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Falk, Marni
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Findley, Laurie C.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fresard, Laure
Gahl, William A.
Glass, Ian
Godfrey, Rena A.
Golden-Grant, Katie
Goldman, Alica M.
Goldstein, David B.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
Gutierrez, Irma
Hahn, Sihoun
Hamid, Rizwan
Hanchard, Neil A.
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Isasi, Rosario
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Johnston, Jean M.
Karaviti, Lefkothea
Kelley, Emily G.
Kennedy, Jennifer
Kiley, Dana
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
Lau, C. Christopher
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Lewis, Richard A.
Lincoln, Sharyn A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen
F
.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Mak, Bryan
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Markello, Thomas C.
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McCormack, Colleen E.
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nakano-Okuno, Mariko
Nath, Avi
Nelson
,
Stan
F
.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Scott, C. Ron
Schaechter, Judy
Schedl, Timothy
Scott, Daryl A.
Sharma, Prashant
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Solnica-Krezel, Lilianna
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tamburro, Cecelia P.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Wallace, Stephanie
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-Kai
Wangler, Michael
F
.
Ward, Patricia A.
Wegner, Daniel
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Woods, Jeremy D.
Yamamoto, Shinya
Yang, John
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zuchner, Stephan
Jeffries, Lauren
Mis, Emily K.
McWalter, Kirsty
Donkervoort, Sandra
Brodsky, Nina N.
Carpier, Jean-Marie
Ji, Weizhen
Ionita, Cristian
Roy, Bhaskar
Morrow, Jon S.
Darbinyan, Armine
Iyer, Krishna
Aul, Ritu B.
Chao, Katherine R.
Cobbold, Laura
Cohen, Stacey
Custodio, Helena M.
Drummond-Borg, Margaret
Finanger, Erika
Hainline, Bryan E.
Helbig, Ingo
Hewson, Stacy
Hu, Ying
Jackson, Adam
Konstantino, Monica
Leach, Meganne E.
McCormick, David
Nelson
, Stanley
Nguyen, Joanne
Nugent, Kimberly
Ortega, Lucy
Goodkin, Howard P.
Roeder, Elizabeth
Roy, Sani
Sapp, Katie
Saade, Dimah
Sisodiya, Sanjay M.
Stals, Karen
Towner, Shelley
Wilson, William
Khokha, Mustafa K.
Bönnemann, Carsten G.
Lucas, Carrie L.
Lakhani, Saquib A.
DB Label
Database : ScienceDirect
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등재 - SCOPUS
조회 - Impact Factor (JCR)
2
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
학술저널
issue
Science advances
. 6(49)
Author
Bryant, Laura
Li, Dong
Cox, Samuel G
Marchione, Dylan
Joiner, Evan
F
Wilson, Khadija
Janssen, Kevin
Lee, Pearl
March, Michael E
Nair, Divya
Sherr, Elliott
Fregeau, Brieana
Wierenga, Klaas J
Wadley, Alexandrea
Mancini, Grazia MS
Powell-Hamilton, Nina
van de Kamp, Jiddeke
Grebe, Theresa
Dean, John
Ross, Alison
Crawford, Heather P
Powis, Zoe
Cho, Megan T
Willing, Marcia C
Manwaring, Linda
Schot, Rachel
Nava, Caroline
Afenjar, Alexandra
Lessel, Davor
Wagner, Matias
Klopstock, Thomas
Winkelmann, Juliane
Catarino, Claudia B
Retterer, Kyle
Schuette, Jane L
Innis, Jeffrey W
Pizzino, Amy
Lüttgen, Sabine
Denecke, Jonas
Strom, Tim M
Monaghan, Kristin G
DDD Study
Yuan, Zuo-Fei
Dubbs, Holly
Bend, Renee
Lee, Jennifer A
Lyons, Michael J
Hoefele, Julia
Günthner, Roman
Reutter, Heiko
Keren, Boris
Radtke, Kelly
Sherbini, Omar
Mrokse, Cameron
Helbig, Katherine L
Odent, Sylvie
Cogne, Benjamin
Mercier, Sandra
Bezieau, Stephane
Besnard, Thomas
Kury, Sebastien
Redon, Richard
Reinson, Karit
Wojcik, Monica H
Õunap, Katrin
Ilves, Pilvi
Innes, A Micheil
Kernohan, Kristin D
Care4Rare Canada Consortium
Costain, Gregory
Meyn, M Stephen
Chitayat, David
Zackai, Elaine
Lehman, Anna
Kitson, Hilary
CAUSES Study
Martin, Martin G
Martinez-Agosto, Julian A
Undiagnosed Diseases Network
Nelson
,
Stan
F
Palmer, Christina GS
Papp, Jeanette C
Parker, Neil H
Sinsheimer, Janet S
Vilain, Eric
Wan, Jijun
Yoon, Amanda J
Zheng, Allison
Brimble, Elise
Ferrero, Giovanni Battista
Radio, Francesca Clementina
Carli, Diana
Barresi, Sabina
Brusco, Alfredo
Tartaglia, Marco
Thomas, Jennifer Muncy
Umana, Luis
Weiss, Marjan M
Gotway, Garrett
Stuurman, KE
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship)
3
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
학술저널
issue
In
The American Journal of Human Genetics
4 May 2023 110(5):774-789
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole,
F
. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Deardorff, Matthew
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Falk, Marni
Fernandez, Liliana
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Godfrey, Rena A.
Golden-Grant, Katie
Goldrich, Madison P.
Grajewski, Alana
Gutierrez, Irma
Hadley, Don
Hahn, Sihoun
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Kennedy, Jennifer
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Lalani, Seema R.
Lam, Byron
Lam, Christina
LaMoure, Grace L.
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen
F
.
MacRae, Calum A.
Maduro, Valerie V.
Mahoney, Rachel
Mak, Bryan C.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Nakano-Okuno, Mariko
Nelson
,
Stan
F
.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Raper, Anna
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, C. Ron
Scott, Daryl A.
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Krezel, Lilianna Solnica
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Jennifer A.
Sullivan, Kathleen
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Amelia L.M.
Tan, Queenie K.- G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael
F
.
Ward, Patricia A.
Wegner, Daniel
Weisz-Hubshman, Monika
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zastrow, Diane B.
Zhang, Zhe
Zhao, Chunli
Zuchner, Stephan
Tepe, Burak
Macke, Erica L.
Niceta, Marcello
Weisz Hubshman, Monika
Kanca, Oguz
Schultz-Rogers, Laura
Zarate, Yuri A.
Schaefer, G. Bradley
Granadillo De Luque, Jorge Luis
Wegner, Daniel J.
Cogne, Benjamin
Gilbert-Dussardier, Brigitte
Le Guillou, Xavier
Wagner, Eric J.
Pais, Lynn S.
Neil, Jennifer E.
Mochida, Ganeshwaran H.
Walsh, Christopher A.
Magal, Nurit
Drasinover, Valerie
Shohat, Mordechai
Schwab, Tanya
Schmitz, Chris
Clark, Karl
Fine, Anthony
Lanpher, Brendan
Gavrilova, Ralitza
Blanc, Pierre
Burglen, Lydie
Afenjar, Alexandra
Steel, Dora
Kurian, Manju A.
Prabhakar, Prab
Gößwein, Sophie
Di Donato, Nataliya
Bertini, Enrico S.
Tartaglia, Marco
Klee, Eric W.
DB Label
Database : ScienceDirect
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Full Text (ScienceDirect O/A)
등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
4
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
학술저널
issue
In
Genetics in Medicine
April 2023 25(4)
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole,
F
. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Deardorff, Matthew
Dell’Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Falk, Marni
Fernandez, Liliana
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Godfrey, Rena A.
Golden-Grant, Katie
Goldrich, Madison P.
Grajewski, Alana
Gutierrez, Irma
Hadley, Don
Hahn, Sihoun
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Kennedy, Jennifer
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Lalani, Seema R.
Lam, Byron
Lam, Christina
LaMoure, Grace L.
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen
F
.
MacRae, Calum A.
Maduro, Valerie V.
Mahoney, Rachel
Mak, Bryan C.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Nakano-Okuno, Mariko
Nelson
,
Stan
F
.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Raper, Anna
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, C. Ron
Scott, Daryl A.
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Jennifer A.
Sullivan, Kathleen
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Amelia L.M.
Tan, Queenie K.-G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael
F
.
Ward, Patricia A.
Wegner, Daniel
Weisz-Hubshman, Monika
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zastrow, Diane B.
Zhang, Zhe
Zhao, Chunli
Zuchner, Stephan
Reuter, Chloe
Kohler, Jennefer
Zastrow, Diane
Alkelai, Anna
Baugh, Evan
Cope, Heidi
DB Label
Database : ScienceDirect
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Full Text (ScienceDirect O/A)
등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
5
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
학술저널
issue
In
Genetics in Medicine
October 2021 23(10):1889-1900
Author
Ravenscroft, Thomas A.
Phillips, Jennifer B.
Fieg, Elizabeth
Bajikar, Sameer S.
Peirce, Judy
Wegner, Jeremy
Luna, Alia A.
Fox, Eric J.
Yan, Yi-Lin
Rosenfeld, Jill A.
Zirin, Jonathan
Kanca, Oguz
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Agrawal, Pankaj B.
Alejandro, Mercedes E.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanya, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonnenmann, Carsten
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole,
F
. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Deardorff, Matthew
Dell’Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Draper, David D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Falk, Marni
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Findley, Laurie C.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fresard, Laure
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Godfrey, Rena A.
Golden-Grant, Katie
Goldman, Alica M.
Goldrich, Madison P.
Goldstein, David B.
Grajewski, Alana
Groden, Catherine A.
Gutierrez, Irma
Hahn, Sihoun
Hamid, Rizwan
Hanchard, Neil A.
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Huryn, Laryssa
Isasi, Rosario
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Karaviti, Lefkothea
Kennedy, Jennifer
Kiley, Dana
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Lalani, Seema R.
Lam, Byron
Lam, Christina
LaMoure, Grace L.
Lanpher, Brendan C.
Lanza, Ian R.
Latham, Lea
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Lewis, Richard A.
Lincoln, Sharyn A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
MacDowall, John
Macnamara, Ellen
F
.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Mak, Bryan C.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Markello, Thomas C.
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Moretti, Paolo M.
Mosbrook-Davis, Deborah
Mulvihill, John J.
Murdock, David R.
Nagy, Anna
Nakano-Okuno, Mariko
Nath, Avi
Nelson
,
Stan
F
.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Power, Bradley
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Scott, C. Ron
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Shashi, Vandana
Shin, Jimann
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Jennifer A.
Sullivan, Kathleen
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Amelia L.M.
Tan, Queenie K.-G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Thurm, Audrey
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Wallace, Stephanie
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael
F
.
Ward, Patricia A.
Wegner, Daniel
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Woods, Jeremy D.
Yamamoto, Shinya
Yang, John
Yousef, Muhammad
Zastrow, Diane B.
Zein, Wadih
Zhao, Chunli
Zuchner, Stephan
Benke, Paul J.
Cameron, Eric S.
Strehlow, Vincent
Platzer, Konrad
Jamra, Rami Abou
Klöckner, Chiara
Osmond, Matthew
Licata, Thomas
Rojas, Samantha
Dyment, David
Chong, Josephine S.C.
Lincoln, Sharyn
Postlethwait, John H.
Krier, Joel
Bellen, Hugo J.
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6
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
학술저널
issue
In
Biological Psychiatry
15 January 2020 87(2):100-112
Author
Pena, Loren
Shashi, Vandana
Schoch, Kelly
Sullivan, Jennifer A.
Acosta, Maria T.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Barbouth, Deborah
Batzli, Gabriel
F
.
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bivona, Stephanie
Bonnenmann, Carsten
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Carrasquillo, Olveen
Peter Chang, Ta Chen
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Cole,
F
. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Dasari, Surendra
Davids, Mariska
Davidson, Jean M.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika M.
Duncan, Laura
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Enns, Gregory M.
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Friedman, Noah D.
Gahl, William A.
Godfrey, Rena A.
Goldman, Alica M.
Goldstein, David B.
Gourdine, Jean-Philippe
F
.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Frances
Holm, Ingrid A.
Hom, Jason
Huang, Alden
Huang, Yong
Isasi, Rosario
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Karaviti, Lefkothea
Kelley, Emily G.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lam, Byron
Lanpher, Brendan C.
Lanza, Ian R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Liu, Pengfei
Liu, Xue Zhong
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen
F
.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McCauley, Jacob
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Morava-Kozicz, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nath, Avi
Nelson
,
Stan
F
.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pak, Stephen
Pallais, J. Carl
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Renteri, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rowley, Robb K.
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shields, Kathleen
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sweetser, David A.
Tamburro, Cecelia P.
Tan, Queenie K.-G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael
F
.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Wegner, Daniel
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Woods, Jeremy D.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zuchner, Stephan
Gahl, William
Johnson, Brett V.
Kumar, Raman
Oishi, Sabrina
Alexander, Suzy
Kasherman, Maria
Vega, Michelle Sanchez
Ivancevic, Atma
Gardner, Alison
Domingo, Deepti
Corbett, Mark
Parnell, Euan
Yoon, Sehyoun
Oh, Tracey
Lines, Matthew
Lefroy, Henrietta
Kini, Usha
Van Allen, Margot
Grønborg, Sabine
Mercier, Sandra
Küry, Sébastien
Bézieau, Stéphane
Pasquier, Laurent
Raynaud, Martine
Afenjar, Alexandra
Billette de Villemeur, Thierry
Keren, Boris
Désir, Julie
Van Maldergem, Lionel
Marangoni, Martina
Dikow, Nicola
Koolen, David A.
VanHasselt, Peter M.
Weiss, Marjan
Zwijnenburg, Petra
Sa, Joaquim
Reis, Claudia Falcao
López-Otín, Carlos
Santiago-Fernández, Olaya
Fernández-Jaén, Alberto
Rauch, Anita
Steindl, Katharina
Joset, Pascal
Goldstein, Amy
Madan-Khetarpal, Suneeta
Infante, Elena
Zackai, Elaine
Mcdougall, Carey
Narayanan, Vinodh
Ramsey, Keri
Mercimek-Andrews, Saadet
Pinto e Vairo, Filippo
Pichurin, Pavel N.
Ewing, Sarah A.
Barnett, Sarah S.
Klee, Eric W.
Perry, M. Scott
Koenig, Mary Kay
Keegan, Catherine E.
Schuette, Jane L.
Asher, Stephanie
Perilla-Young, Yezmin
Smith, Laurie D.
Bhoj, Elizabeth
Kaplan, Paige
Li, Dong
Oegema, Renske
van Binsbergen, Ellen
van der Zwaag, Bert
Smeland, Marie Falkenberg
Cutcutache, Ioana
Page, Matthew
Armstrong, Martin
Lin, Angela E.
Steeves, Marcie A.
Hollander, Nicolette den
Hoffer, Mariëtte J.V.
Reijnders, Margot R.
F
.
Demirdas, Serwet
Koboldt, Daniel C.
Bartholomew, Dennis
Mosher, Theresa Mihalic
Hickey, Scott E.
Shieh, Christine
Sanchez-Lara, Pedro A.
Graham, John M., Jr.
Tezcan, Kamer
Schaefer, G.B.
Danylchuk, Noelle R.
Asamoah, Alexander
Jackson, Kelly E.
Yachelevich, Naomi
Au, Margaret
Pérez-Jurado, Luis A.
Kleefstra, Tjitske
Penzes, Peter
Wood, Stephen A.
Burne, Thomas
Pierson, Tyler Mark
Piper, Michael
Gécz, Jozef
Jolly, Lachlan A.
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7
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
학술저널
issue
Neurology: Genetics
. Aug 01, 2018 4(4)
Author
Machol, Keren
Jankovic, Joseph
Vijayakumar, Dhanya
Burrage, Lindsay C.
Jain, Mahim
Lewis, Richard A.
Fuller, Gregory N.
Xu, Mingchu
Penas-Prado, Marta
Gule-Monroe, Maria K.
Rosenfeld, Jill A.
Chen, Rui
Eng, Christine M.
Yang, Yaping
Lee, Brendan H.
Moretti, Paolo M.
Dhar, Shweta U.
Alejandro, Mercedes E.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Bostwick, Bret L.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Craigen, William J.
Dhar, Shweta U.
Emrick, Lisa T.
Goldman, Alica M.
Hanchard, Neil A.
Jamal, Fariha
Karaviti, Lefkothea
Lalani, Seema R.
Lee, Brendan H.
Lewis, Richard A.
Marom, Ronit
Moretti, Paolo M.
Murdock, David R.
Nicholas, Sarah K.
Orange, Jordan S.
Orengo, James P.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Bellen, Hugo J.
Wangler, Michael
F
.
Yamamoto, Shinya
Eng, Christine M.
Muzny, Donna M.
Ward, Patricia A.
Yang, Yaping
Goldstein, David B.
Stong, Nicholas
Cope, Heidi
Jiang, Yong-hui
McConkie-Rosell, Allyn
Pena, Loren DM.
Schoch, Kelly
Shashi, Vandana
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Tan, Queenie K.G.
Walley, Nicole M.
Aaron, Aday
Beggs, Alan H.
Briere, Lauren C.
Cooper, Cynthia M.
Donnell-Fink, Laurel A.
High, Francis
Korrick, Susan
Krieg, Elizabeth L.
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walker, Melissa
Walsh, Chris A.
Esteves, Cecilia
Glanton, Emily
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Might, Matthew
LeBlanc, Kimberly
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Brown, Donna M.
Dorset, Daniel C.
Handley, Lori H.
Jones, Angela L.
Lazar, Jozef
Levy, Shawn E.
May, Thomas
Newberry, J. Scott
Schroeder, Molly C.
Worthey, Elizabeth A.
Batzli, Gabriel
F
.
Dayal, Jyoti G.
Eckstein, David J.
Gould, Sarah E.
Howerton, Ellen M.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
Urv, Tiina K.
Wise, Anastasia L.
Brush, Matthew
Gourdine, Jean-Philippe
F
.
Haendel, Melissa
Koeller, David M.
Kyle, Jennifer E.
Metz, Thomas O.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Ashley, Euan A.
Bernstein, Jonathan A.
Bonner, Devon
Coakley, Terra R.
Davidson, Jean M.
Dries, Annika M.
Enns, Gregory M.
Fernandez, Liliana
Fisher, Paul G.
Friedman, Noah D.
Hom, Jason
Huang, Yong
Kohler, Jennefer N.
Majcherska, Marta M.
Marwaha, Shruti
McCormack, Colleen E.
Merker, Jason D.
Reuter, Chloe M.
Sampson, Jacinda B.
Smith, Kevin S.
Waggott, Daryl M.
Wheeler, Matthew T.
Zastrow, Diane B.
Zhao, Chunli
Allard, Patrick
Barseghyan, Hayk
Butte, Manish J.
DellʼAngelica, Esteban C.
Dipple, Katrina M.
Dorrani, Naghmeh
Douine, Emilie D.
Eskin, Ascia
Fogel, Brent L.
Herzog, Matthew R.
Lee, Hane
Loo, Sandra K.
Martin, Martin G.
Martínez-Agosto, Julian A.
Nelson
,
Stan
F
.
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Sinsheimer, Janet S.
Vilain, Eric
Wan, Jijun
Yoon, Amanda J.
Zheng, Allison
Behnam, Babak
Burke, Elizabeth A.
DʼSouza, Precilla
Davids, Mariska
Draper, David D.
Estwick, Tyra
Ferreira, Carlos
Godfrey, Rena A.
Groden, Catherine A.
Johnston, Jean M.
Lau, C. Christopher
Macnamara, Ellen
F
.
Maduro, Valerie V.
Markello, Thomas C.
Morimoto, Marie
Murphy, Jennifer L.
Nehrebecky, Michele E.
Novacic, Donna
Pusey, Barbara N.
Sharma, Prashant
Toro, Camilo
Valivullah, Zaheer M.
Wahl, Colleen E.
Yu, Guoyun
Gropman, Andrea L.
Adams, David R.
Gahl, William A.
Malicdan, May Christine V.
Tifft, Cynthia J.
Wolfe, Lynne A.
Postlethwait, John H.
Westerfield, Monte
Bican, Anna
Hamid, Rizwan
Newman, John H.
Phillips, John A.
, III
Robertson, Amy K.
Cogan, Joy D.
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8
Assessing the Significance of Chromosomal Aberrations in Cancer: Methodology and Application to Glioma
학술저널
issue
Proceedings of the National Academy of Sciences of the United States of America, 2007 Dec 01. 104(50), 20007-20012.
Author
Beroukhim, Rameen
Getz, Gad
Nghiemphu, Leia
Barretina, Jordi
Hsueh, Teli
Linhart, David
Vivanco, Igor
Lee, Jeffrey C.
Huang, Julie H.
Alexander, Sethu
Du, Jinyan
Kau, Tweeny
Thomas, Roman K.
Shah, Kinjal
Soto, Horacio
Perner, Sven
Prensner, John
Debiasi, Ralph M.
Demichelis, Francesca
Hatton, Charlie
Rubin, Mark A.
Garraway, Levi A.
Nelson
,
Stan
F
.
Liau, Linda
Mischel, Paul S.
Cloughesy, Tim
F
.
Meyerson, Matthew
Golub, Todd A.
Lander, Eric S.
Mellinghoff, Ingo K.
Sellers, William R.
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9
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
학술저널
issue
SCIENTIFIC DATA
; APR 21 2021, 8 1, p114 12p.
Author
Kyle, Jennifer E.
Stratton, Kelly G.
Zink, Erika M.
Kim, Young-Mo
Bloodsworth, Kent J.
Monroe, Matthew E.
Bacino, Carlos A.
Hanchard, Neil A.
Lewis, Richard A.
Rosenfeld, Jill A.
Scott, Daryl A.
Tran, Alyssa A.
Ward, Patricia A.
Burrage, Lindsay C.
Clark, Gary D.
Alejandro, Mercedes E.
Posey, Jennifer E.
Wangler, Michael
F
.
Lee, Brendan H.
Craigen, William J.
Bellen, Hugo J.
Nicholas, Sarah K.
Bostwick, Bret L.
Samson, Susan L.
Goldman, Alica M.
Moretti, Paolo M.
Eng, Christine M.
Muzny, Donna M.
Orengo, James P.
Vogel, Tiphanie P.
Lalani, Seema R.
Murdock, David R.
Azamian, Mahshid S.
Orange, Jordan S.
Emrick, Lisa T.
Dhar, Shweta U.
Balasubramanyam, Ashok
Potocki, Lorraine
Yamamoto, Shinya
Yang, Yaping
Chen, Shan
Jamal, Fariha
Karaviti, Lefkothea
Marom, Ronit
Lincoln, Sharyn A.
Walsh, Chris A.
Beggs, Alan H.
Rodan, Lance H.
Stoler, Joan M.
Berry, Gerard T.
Cobban, Laurel A.
MacRae, Calum A.
Krier, Joel B.
Silverman, Edwin K.
Fieg, Elizabeth L.
Maas, Richard L.
Loscalzo, Joseph
Aday, Aaron
Korrick, Susan
Goldstein, David B.
Stong, Nicholas
Sullivan, Jennifer A.
Spillmann, Rebecca C.
Pena, Loren D. M.
Tan, Queenie K. -G.
Walley, Nicole M.
Jiang, Yong-hui
McConkie-Rosell, Allyn
Schoch, Kelly
Shashi, Vandana
Cope, Heidi
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Esteves, Cecilia
LeBlanc, Kimberly
Might, Matthew
Kelley, Emily
Worthey, Elizabeth A.
Dorset, Daniel C.
Boone, Braden E.
Levy, Shawn E.
Birch, Camille L.
Jones, Angela L.
Brown, Donna M.
Bick, David P.
Newberry, J. Scott
Lazar, Jozef
May, Thomas
Sweetser, David A.
Briere, Lauren C.
Pallais, J. Carl
Cooper, Cynthia M.
High, Frances
Walker, Melissa
Colley, Heather A.
Mamounas, Laura A.
Manolio, Teri A.
Burke, Elizabeth A.
Godfrey, Rena A.
Groden, Catherine A.
Gahl, William A.
Wolfe, Lynne A.
Markello, Thomas C.
Lau, C. Christopher
Draper, David D.
Gould, Sarah E.
Nehrebecky, Michele E.
Wahl, Colleen E.
Batzli, Gabriel
F
.
Macnamara, Ellen
F
.
Dayal, Jyoti G.
Eckstein, David J.
Mulvihill, John J.
Tifft, Cynthia J.
Urv, Tiina K.
Wise, Anastasia L.
Murphy, Jennifer L.
Gropman, Andrea L.
Howerton, Ellen M.
Krasnewich, Donna M.
Johnston, Jean M.
Pusey, Barbara N.
Adams, David R.
Maduro, Valerie V.
Malicdan, May Christine V.
Davids, Mariska
Estwick, Tyra
Novacic, Donna
Sharma, Prashant
Toro, Camilo
Yu, Guoyun
Behnam, Babak
D'Souza, Precilla
Ferreira, Carlos
Morimoto, Marie
Baker, Eva H.
Yang, John
Gourdine, Jean-Philippe
F
.
Brush, Matthew
Haendel, Melissa
Ashley, Euan A.
Bernstein, Jonathan A.
Sampson, Jacinda B.
Zastrow, Diane B.
Friedman, Noah D.
Merker, Jason D.
McCormack, Colleen E.
Fisher, Paul G.
Davidson, Jean M.
Dries, Annika M.
Enns, Gregory M.
Majcherska, Marta M.
Reuter, Chloe M.
Waggott, Daryl M.
Kohler, Jennefer N.
Coakley, Terra R.
Smith, Kevin S.
Wheeler, Matthew T.
Bonner, Devon
Fernandez, Liliana
Hom, Jason
Huang, Yong
Marwaha, Shruti
Zhao, Chunli
Martinez-Agosto, Julian A.
Dell'Angelica, Esteban C.
Papp, Jeanette C.
Douine, Emilie D.
Nelson
,
Stan
F
.
Martin, Martin G.
Palmer, Christina GS.
Parker, Neil H.
Butte, Manish J.
Yoon, Amanda J.
Loo, Sandra K.
Fogel, Brent L.
Dipple, Katrina M.
Sinsheimer, Janet S.
Allard, Patrick
Barseghyan, Hayk
Dorrani, Naghmeh
Lee, Hane
Vilain, Eric
Eskin, Ascia
Renteria, Genecee
Signer, Rebecca
Wan, Jijun
Zheng, Allison
Westerfield, Monte
Phillips, John A., III
Cogan, Joy D.
Newman, John H.
Robertson, Amy K.
Hamid, Rizwan
Bican, Anna
Brokamp, Elly
Duncan, Laura
Kozuira, Mary
Rives, Lynette
Shakachite, Lisa
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Koeller, David M.
Metz, Thomas O.
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
OA (Springer)
OA (Nature)
등재 - Web of Science
등재 - SCOPUS
조회 - Impact Factor (JCR)
10
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
정기출판물
issue
Genetics in Medicine; July 2022, Vol. 24 Issue: 7 p1567-1582, 16p
Author
Shankar, Suma P.
Grimsrud, Kristin
Lanoue, Louise
Egense, Alena
Willis, Brandon
Hörberg, Johanna
AlAbdi, Lama
Mayer, Klaus
Ütkür, Koray
Monaghan, Kristin G.
Krier, Joel
Stoler, Joan
Alnemer, Maha
Shankar, Prabhu R.
Schaffrath, Raffael
Alkuraya, Fowzan S.
Brinkmann, Ulrich
Eriksson, Leif A.
Lloyd, Kent
Rauen, Katherine A.
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole,
F
. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Deardorff, Matthew
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Falk, Marni
Fernandez, Liliana
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Godfrey, Rena A.
Golden-Grant, Katie
Goldrich, Madison P.
Grajewski, Alana
Gutierrez, Irma
Hadley, Don
Hahn, Sihoun
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Kennedy, Jennifer
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Lalani, Seema R.
Lam, Byron
Lam, Christina
LaMoure, Grace L.
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen
F
.
MacRae, Calum A.
Maduro, Valerie V.
Mak, Bryan C.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Nakano-Okuno, Mariko
Nelson
,
Stan
F
.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Raper, Anna
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Scott, C. Ron
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Jennifer A.
Sullivan, Kathleen
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Amelia L.M.
Queenie, K.-G.
Tan
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Wallace, Stephanie
Walley, Nicole M.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael
F
.
Ward, Patricia A.
Wegner, Daniel
Weisz-Hubshman, Monika
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zastrow, Diane B.
Zhang, Zhe
Zhao, Chunli
Zuchner, Stephan
Bellen, Hugo
Mahoney, Rachel
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)
등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
1
2
3
4
5
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