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51
An autosomal dominant neurological disorder caused by de novo variants in FAR1resulting in uncontrolled synthesis of ether lipids 미리보기

정기출판물

issue
Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p740-750, 11p
Author
Ferdinandusse, Sacha
McWalter, Kirsty
te Brinke, Heleen
IJlst, Lodewijk
Mooijer, Petra M.
Ruiter, Jos P.N.
van Lint, Alida E.M.
Pras-Raves, Mia
Wever, Eric
Millan, Francisca
Guillen Sacoto, Maria J.
Begtrup, Amber
Tarnopolsky, Mark
Brady, Lauren
Ladda, Roger L.
Sell, Susan L.
Nowak, Catherine B.
Douglas, Jessica
Tian, Cuixia
Ulm, Elizabeth
Perlman, Seth
Drack, Arlene V.
Chong, Karen
Martin, Nicole
Brault, Jennifer
Brokamp, Elly
Toro, Camilo
Gahl, William A.
Macnamara, Ellen F.
Wolfe, Lynne
Alejandro, Mercedes E.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Burrage, Lindsay C.
Chao, Hsiao-Tuan
Clark, Gary D.
Craigen, William J.
Dai, Hongzheng
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.
Orengo, James P.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine M.
Liu, Pengfei
Ward, Patricia A.
Behrens, Edward
Deardorff, Matthew
Falk, Marni
Hassey, Kelly
Sullivan, Kathleen
Vanderver, Adeline
Goldstein, David B.
Cope, Heidi
McConkie-Rosell, Allyn
Schoch, Kelly
Shashi, Vandana
Smith, Edward C.
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Tan, Queenie K.-G.
Walley, Nicole M.
Agrawal, Pankaj B.
Beggs, Alan H.
Berry, Gerard T.
Briere, Lauren C.
Cobban, Laurel A.
Coggins, Matthew
Cooper, Cynthia M.
Fieg, Elizabeth L.
High, Frances
Holm, Ingrid A.
Korrick, Susan
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rao, Deepak A.
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walker, Melissa
Walsh, Chris A.
Esteves, Cecilia
Kelley, Emily G.
Kohane, Isaac S.
LeBlanc, Kimberly
McCray, Alexa T.
Nagy, Anna
Dasari, Surendra
Lanpher, Brendan C.
Lanza, Ian R.
Morava, Eva
Oglesbee, Devin
Bademci, Guney
Barbouth, Deborah
Bivona, Stephanie
Carrasquillo, Olveen
Chang, Ta Chen Peter
Forghani, Irman
Grajewski, Alana
Isasi, Rosario
Lam, Byron
Levitt, Roy
Liu, Xue Zhong
McCauley, Jacob
Sacco, Ralph
Saporta, Mario
Schaechter, Judy
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Zuchner, Stephan
Colley, Heather A.
Dayal, Jyoti G.
Eckstein, David J.
Findley, Laurie C.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
LaMoure, Grace L.
Goldrich, Madison P.
Urv, Tiina K.
Doss, Argenia L.
Acosta, Maria T.
Bonnenmann, Carsten
D’Souza, Precilla
Draper, David D.
Ferreira, Carlos
Godfrey, Rena A.
Groden, Catherine A.
Macnamara, Ellen F.
Maduro, Valerie V.
Markello, Thomas C.
Nath, Avi
Novacic, Donna
Pusey, Barbara N.
Toro, Camilo
Wahl, Colleen E.
Baker, Eva
Burke, Elizabeth A.
Adams, David R.
Gahl, William A.
Malicdan, May Christine V.
Tifft, Cynthia J.
Wolfe, Lynne A.
Yang, John
Power, Bradley
Gochuico, Bernadette
Huryn, Laryssa
Latham, Lea
Davis, Joie
Mosbrook-Davis, Deborah
Rossignol, Francis
Solomon, Ben
MacDowall, John
Thurm, Audrey
Zein, Wadih
Yousef, Muhammad
Adam, Margaret
Amendola, Laura
Bamshad, Michael
Beck, Anita
Bennett, Jimmy
Berg-Rood, Beverly
Blue, Elizabeth
Boyd, Brenna
Byers, Peter
Chanprasert, Sirisak
Cunningham, Michael
Dipple, Katrina
Doherty, Daniel
Earl, Dawn
Glass, Ian
Golden-Grant, Katie
Hahn, Sihoun
Hing, Anne
Hisama, Fuki M.
Horike-Pyne, Martha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Lam, Christina
Maravilla, Kenneth
Mefford, Heather
Merritt, J. Lawrence
Mirzaa, Ghayda
Nickerson, Deborah
Raskind, Wendy
Rosenwasser, Natalie
Scott, C. Ron
Sun, Angela
Sybert, Virginia
Wallace, Stephanie
Wener, Mark
Wenger, Tara
Ashley, Euan A.
Bejerano, Gill
Bernstein, Jonathan A.
Bonner, Devon
Coakley, Terra R.
Fernandez, Liliana
Fisher, Paul G.
Fresard, Laure
Hom, Jason
Huang, Yong
Kohler, Jennefer N.
Kravets, Elijah
Majcherska, Marta M.
Martin, Beth A.
Marwaha, Shruti
McCormack, Colleen E.
Raja, Archana N.
Reuter, Chloe M.
Ruzhnikov, Maura
Sampson, Jacinda B.
Smith, Kevin S.
Sutton, Shirley
Tabor, Holly K.
Tucker, Brianna M.
Wheeler, Matthew T.
Zastrow, Diane B.
Zhao, Chunli
Byrd, William E.
Crouse, Andrew B.
Might, Matthew
Nakano-Okuno, Mariko
Whitlock, Jordan
Brown, Gabrielle
Butte, Manish J.
Dell’Angelica, Esteban C.
Dorrani, Naghmeh
Douine, Emilie D.
Fogel, Brent L.
Gutierrez, Irma
Huang, Alden
Krakow, Deborah
Lee, Hane
Loo, Sandra K.
Mak, Bryan C.
Martin, Martin G.
Martínez-Agosto, Julian A.
McGee, Elisabeth
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Renteria, Genecee
Signer, Rebecca H.
Sinsheimer, Janet S.
Wan, Jijun
Wang, Lee-kai
Perry, Katherine Wesseling
Woods, Jeremy D.
Alvey, Justin
Andrews, Ashley
Bale, Jim
Bohnsack, John
Botto, Lorenzo
Carey, John
Pace, Laura
Longo, Nicola
Marth, Gabor
Moretti, Paolo
Quinlan, Aaron
Velinder, Matt
Viskochil, Dave
Bayrak-Toydemir, Pinar
Mao, Rong
Westerfield, Monte
Bican, Anna
Brokamp, Elly
Duncan, Laura
Hamid, Rizwan
Kennedy, Jennifer
Kozuira, Mary
Newman, John H.
Phillips, John A.
Rives, Lynette
Robertson, Amy K.
Solem, Emily
Cogan, Joy D.
Cole, F. Sessions
Hayes, Nichole
Kiley, Dana
Sisco, Kathy
Wambach, Jennifer
Wegner, Daniel
Baldridge, Dustin
Pak, Stephen
Schedl, Timothy
Shin, Jimann
Solnica-Krezel, Lilianna
Waisfisz, Quinten
Zwijnenburg, Petra J.G.
Ziegler, Alban
Barth, Magalie
Smith, Rosemarie
Ellingwood, Sara
Gaebler-Spira, Deborah
Bakhtiari, Somayeh
Kruer, Michael C.
van Kampen, Antoine H.C.
Wanders, Ronald J.A.
Waterham, Hans R.
Cassiman, David
Vaz, Frédéric M.
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS  원문복사신청 - FRIC 
53
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy 미리보기

issue
In Clinical Imaging November-December 2019 58:108-113
Author
Acosta, Maria T.
Adams, David R.
Agrawal, Pankaj
Alejandro, Mercedes E.
Allard, Patrick
Alvey, Justin
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Barbouth, Deborah
Batzli, Gabriel F.
Bayrak-Toydemir, Pinar
Beggs, Alan H.
Bejerano, Gill
Bellen, Hugo J.
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bivona, Stephanie
Bohnsack, John
Bonnenmann, Carsten
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Botto, Lorenzo
Briere, Lauren C.
Brokamp, Elly
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Carey, John
Carrasquillo, Olveen
Chang, Ta Chen Peter
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
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Duncan, Laura
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fresard, Laure
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.
Hayes, Nichole
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.
Kiley, Dana
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
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.
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.
Mao, Rong
Markello, Thomas C.
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McCauley, Jacob
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
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.
Pace, Laura
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raja, Archana N.
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rowley, Robb K.
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Shields, Kathleen
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Kevin S.
Solnica-Krezel, Lilianna
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sutton, Shirley
Sweetser, David A.
Tabor, Holly K.
Tamburro, Cecelia P.
Tan, Queenie K.-G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
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
Bhatia, Aashim
Mobley, Bret C.
Cogan, Joy
Koziura, Mary E.
Phillips, John
Newman, John
Moore, Steven A.
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect)  Full Text (Clinical Key)  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
54
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy 미리보기

정기출판물

issue
Genetics in Medicine; September 2023, Vol. 25 Issue: 9
Author
Shashi, Vandana
Schoch, Kelly
Ganetzky, Rebecca
Kranz, Peter G.
Sondheimer, Neal
Markert, M. Louise
Cope, Heidi
Sadeghpour, Azita
Roehrs, Philip
Arbogast, Thomas
Muraresku, Colleen
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
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.
Bennett, 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.
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
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dickson, Patricia
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
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.
Maghiro, Audrey Stephannie
Mahoney, Rachel
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
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley 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 Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
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, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
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
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Tyndall, Amanda V.
Esser, Michael J.
Woodward, Kristine E.
Ping-Yee Au, Billie
Parboosingh, Jillian S.
Lamont, Ryan E.
Bernier, Francois P.
Wright, Nicola A.M.
Benseler, Susa M.
Parsons, Simon J.
El-Dairi, Mays
Smith, Edward C.
Valdez, Purnima
Tennison, Michael
Innes, A. Micheil
Davis, Erica E.
DB Label
Database : Supplemental Index
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조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
56
De novo variants in MRTFBhave gain-of-function activity in Drosophilaand are associated with a novel neurodevelopmental phenotype with dysmorphic features 미리보기

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issue
Genetics in Medicine; June 2023, Vol. 25 Issue: 6
Author
Andrews, Jonathan C.
Mok, Jung-Wan
Kanca, Oguz
Jangam, Sharayu
Tifft, Cynthia
Macnamara, Ellen F.
Russell, Bianca E.
Wang, Lee-kai
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
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.
Bennett, 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
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
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.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
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.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
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.
Maghiro, AudreyStephannie
Mahoney, Rachel
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
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley 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 Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
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, Daryl A.
Scott, C. Ron
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, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
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
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Nelson, Stanley F.
Bellen, Hugo J.
Yamamoto, Shinya
Malicdan, May Christine V.
Wangler, Michael F.
DB Label
Database : Supplemental Index
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57
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network 미리보기

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issue
Genetics in Medicine; April 2023, Vol. 25 Issue: 4
Author
Spillmann, Rebecca C.
Tan, Queenie K.-G.
Reuter, Chloe
Schoch, Kelly
Kohler, Jennefer
Bonner, Devon
Zastrow, Diane
Alkelai, Anna
Baugh, Evan
Cope, Heidi
Marwaha, Shruti
Wheeler, Matthew T.
Bernstein, Jonathan A.
Shashi, Vandana
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.
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
DB Label
Database : Supplemental Index
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Full Text (ScienceDirect O/A)  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
58
Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections 미리보기

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issue
Genetics in Medicine; 20230101, Issue: Preprints
Author
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.
Banka, Siddharth
Chao, Katherine R.
Cobbold, Laura
Cohen, Stacey
Custodio, Helena M.
Drummond-Borg, Margaret
Elmslie, Frances
Finanger, Erika
Hainline, Bryan E.
Helbig, Ingo
Hewson, Stacy
Hu, Ying
Jackson, Adam
Josifova, Dragana
Konstantino, Monica
Leach, Meganne E.
Mak, Bryan
McCormick, David
McGee, Elisabeth
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
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
McCann, Emma
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.
Lawson, K.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
MaleadyCrowe, F.
Mason, J.
McDonagh, E.M.
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.
Sultana, R.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Walsh, E.
Watters, S.A.
Welland, M.J.
Williams, E.
Witkowska, K.
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
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
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
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
Davids, Mariska
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
Khokha, Mustafa K.
Bönnemann, Carsten G.
Lucas, Carrie L.
Lakhani, Saquib A.
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
59
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1resulting in uncontrolled synthesis of ether lipids 미리보기

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issue
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2467-2467, 1p
Author
Ferdinandusse, Sacha
McWalter, Kirsty
te Brinke, Heleen
IJlst, Lodewijk
Mooijer, Petra M.
Ruiter, Jos P.N.
van Lint, Alida E.M.
Pras-Raves, Mia
Wever, Eric
Millan, Francisca
Guillen Sacoto, Maria J.
Begtrup, Amber
Tarnopolsky, Mark
Brady, Lauren
Ladda, Roger L.
Sell, Susan L.
Nowak, Catherine B.
Douglas, Jessica
Tian, Cuixia
Ulm, Elizabeth
Perlman, Seth
Drack, Arlene V.
Chong, Karen
Martin, Nicole
Brault, Jennifer
Brokamp, Elly
Toro, Camilo
Gahl, William A.
Macnamara, Ellen F.
Wolfe, Lynne
Alejandro, Mercedes E.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Burrage, Lindsay C.
Chao, Hsiao-Tuan
Clark, Gary D.
Craigen, William J.
Dai, Hongzheng
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.
Orengo, James P.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine M.
Liu, Pengfei
Ward, Patricia A.
Behrens, Edward
Deardorff, Matthew
Falk, Marni
Hassey, Kelly
Sullivan, Kathleen
Vanderver, Adeline
Goldstein, David B.
Cope, Heidi
McConkie-Rosell, Allyn
Schoch, Kelly
Shashi, Vandana
Smith, Edward C.
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Tan, Queenie K.-G.
Walley, Nicole M.
Agrawal, Pankaj B.
Beggs, Alan H.
Berry, Gerard T.
Briere, Lauren C.
Cobban, Laurel A.
Coggins, Matthew
Cooper, Cynthia M.
Fieg, Elizabeth L.
High, Frances
Holm, Ingrid A.
Korrick, Susan
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rao, Deepak A.
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walker, Melissa
Walsh, Chris A.
Esteves, Cecilia
Kelley, Emily G.
Kohane, Isaac S.
LeBlanc, Kimberly
McCray, Alexa T.
Nagy, Anna
Dasari, Surendra
Lanpher, Brendan C.
Lanza, Ian R.
Morava, Eva
Oglesbee, Devin
Bademci, Guney
Barbouth, Deborah
Bivona, Stephanie
Carrasquillo, Olveen
Chang, Ta Chen Peter
Forghani, Irman
Grajewski, Alana
Isasi, Rosario
Lam, Byron
Levitt, Roy
Liu, Xue Zhong
McCauley, Jacob
Sacco, Ralph
Saporta, Mario
Schaechter, Judy
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Zuchner, Stephan
Colley, Heather A.
Dayal, Jyoti G.
Eckstein, David J.
Findley, Laurie C.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
LaMoure, Grace L.
Goldrich, Madison P.
Urv, Tiina K.
Doss, Argenia L.
Acosta, Maria T.
Bonnenmann, Carsten
D’Souza, Precilla
Draper, David D.
Ferreira, Carlos
Godfrey, Rena A.
Groden, Catherine A.
Macnamara, Ellen F.
Maduro, Valerie V.
Markello, Thomas C.
Nath, Avi
Novacic, Donna
Pusey, Barbara N.
Toro, Camilo
Wahl, Colleen E.
Baker, Eva
Burke, Elizabeth A.
Adams, David R.
Gahl, William A.
Malicdan, May Christine V.
Tifft, Cynthia J.
Wolfe, Lynne A.
Yang, John
Power, Bradley
Gochuico, Bernadette
Huryn, Laryssa
Latham, Lea
Davis, Joie
Mosbrook-Davis, Deborah
Rossignol, Francis
Solomon, Ben
MacDowall, John
Thurm, Audrey
Zein, Wadih
Yousef, Muhammad
Adam, Margaret
Amendola, Laura
Bamshad, Michael
Beck, Anita
Bennett, Jimmy
Berg-Rood, Beverly
Blue, Elizabeth
Boyd, Brenna
Byers, Peter
Chanprasert, Sirisak
Cunningham, Michael
Dipple, Katrina
Doherty, Daniel
Earl, Dawn
Glass, Ian
Golden-Grant, Katie
Hahn, Sihoun
Hing, Anne
Hisama, Fuki M.
Horike-Pyne, Martha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Lam, Christina
Maravilla, Kenneth
Mefford, Heather
Merritt, J. Lawrence
Mirzaa, Ghayda
Nickerson, Deborah
Raskind, Wendy
Rosenwasser, Natalie
Scott, C. Ron
Sun, Angela
Sybert, Virginia
Wallace, Stephanie
Wener, Mark
Wenger, Tara
Ashley, Euan A.
Bejerano, Gill
Bernstein, Jonathan A.
Bonner, Devon
Coakley, Terra R.
Fernandez, Liliana
Fisher, Paul G.
Fresard, Laure
Hom, Jason
Huang, Yong
Kohler, Jennefer N.
Kravets, Elijah
Majcherska, Marta M.
Martin, Beth A.
Marwaha, Shruti
McCormack, Colleen E.
Raja, Archana N.
Reuter, Chloe M.
Ruzhnikov, Maura
Sampson, Jacinda B.
Smith, Kevin S.
Sutton, Shirley
Tabor, Holly K.
Tucker, Brianna M.
Wheeler, Matthew T.
Zastrow, Diane B.
Zhao, Chunli
Byrd, William E.
Crouse, Andrew B.
Might, Matthew
Nakano-Okuno, Mariko
Whitlock, Jordan
Brown, Gabrielle
Butte, Manish J.
Dell’Angelica, Esteban C.
Dorrani, Naghmeh
Douine, Emilie D.
Fogel, Brent L.
Gutierrez, Irma
Huang, Alden
Krakow, Deborah
Lee, Hane
Loo, Sandra K.
Mak, Bryan C.
Martin, Martin G.
Martínez-Agosto, Julian A.
McGee, Elisabeth
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Renteria, Genecee
Signer, Rebecca H.
Sinsheimer, Janet S.
Wan, Jijun
Wang, Lee-kai
Perry, Katherine Wesseling
Woods, Jeremy D.
Alvey, Justin
Andrews, Ashley
Bale, Jim
Bohnsack, John
Botto, Lorenzo
Carey, John
Pace, Laura
Longo, Nicola
Marth, Gabor
Moretti, Paolo
Quinlan, Aaron
Velinder, Matt
Viskochil, Dave
Bayrak-Toydemir, Pinar
Mao, Rong
Westerfield, Monte
Bican, Anna
Brokamp, Elly
Duncan, Laura
Hamid, Rizwan
Kennedy, Jennifer
Kozuira, Mary
Newman, John H.
Phillips, John A.
Rives, Lynette
Robertson, Amy K.
Solem, Emily
Cogan, Joy D.
Cole, F. Sessions
Hayes, Nichole
Kiley, Dana
Sisco, Kathy
Wambach, Jennifer
Wegner, Daniel
Baldridge, Dustin
Pak, Stephen
Schedl, Timothy
Shin, Jimann
Solnica-Krezel, Lilianna
Waisfisz, Quinten
Zwijnenburg, Petra J.G.
Ziegler, Alban
Barth, Magalie
Smith, Rosemarie
Ellingwood, Sara
Gaebler-Spira, Deborah
Bakhtiari, Somayeh
Kruer, Michael C.
van Kampen, Antoine H.C.
Wanders, Ronald J.A.
Waterham, Hans R.
Cassiman, David
Vaz, Frédéric M.
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS  원문복사신청 - FRIC 
60
Environmental Modifications to Enhance Pedestrian Children s Safety at School. 미리보기

정기출판물

issue
OT Practice (OT PRACT), 9/9/2013; 18(16): 20-22. (3p)
Author
Van Oss, Tracy; 1St. Rose, Chloe; 2Bivona, Stephanie; 2Johnson, Katelynn; 2Najarían, Tracy2
DB Label
Database : CINAHL Plus with Full Text
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