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5
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma 미리보기

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.
DB Label
Database : Journals@OVID
원문보기
Full Text (LWW - Ovid)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
6
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death 미리보기

학술저널

issue
NATURE MEDICINE; JAN 19 2023, 28p.
Author
Byrne, Alicia B.
Arts, Peer
Ha, Thuong T.
Kassahn, Karin S.
Pais, Lynn S.
O'Donnell-Luria, Anne
Babic, Milena
Frank, Mahalia S. B.
Feng, Jinghua
Wang, Paul
Lawrence, David M.
Eshraghi, Leila
Arriola, Luis
Toubia, John
Nguyen, Hung
McGillivray, George
Pinner, Jason
McKenzie, Fiona
Morrow, Rebecca
Lipsett, Jill
Manton, Nick
Khong, T. Yee
Moore, Lynette
Liebelt, Jan E.
Schreiber, Andreas W.
King-Smith, Sarah L.
Hardy, Tristan S. E.
Jackson, Matilda R.
Barnett, Christopher P.
Scott, Hamish S.
Aguet, Francois
Arachchi, Harindra M.
Austin-Tse, Christina A.
Babb, Larry
Baxter, Samantha M.
Brand, Harrison
Chang, Jaime
Chao, Katherine R.
Collins, Ryan L.
Cummings, Beryl
Delano, Kayla
DiTroia, Stephanie P.
England, Eleina
Evangelista, Emily
Everett, Selin
Francioli, Laurent C.
Fu, Jack
Ganesh, Vijay S.
Garimella, Kiran, V
Gauthier, Laura D.
Goodrich, Julia K.
Gudmundsson, Sanna
Hall, Stacey J.
Huang, Yongqing
Jahl, Steve
Laricchia, Kristen M.
Larkin, Kathryn E.
Lek, Monkol
Lemire, Gabrielle
Lipson, Rachel B.
Lovgren, Alysia Kern
MacArthur, Daniel G.
Mangilog, Brian E.
Mano, Stacy
Marshall, Jamie L.
Mullen, Thomas E.
Nguyen, Kevin K.
O'Heir, Emily
O'Leary, Melanie C.
Osei-Owusu, Ikeoluwa A.
Chavez, Jorge Perez de Acha
Pierce-Hoffman, Emma
Rehm, Heidi L.
Serrano, Milan
Singer-Berk, Moriel
Snow, Hana
Solomonson, Matthew
Son, Rachel G.
Sveden, Abigail
Talkowski, Michael
Tiao, Grace
Udler, Miriam S.
Valivullah, Zaheer
Valkanas, Elise
VanNoy, Grace E.
Wang, Qingbo S.
Watts, Nicholas A.
Weisburd, Ben
Williamson, Clara E.
Wilson, Michael W.
Witzgall, Lauren
Wojcik, Monica H.
Wong, Isaac
Wood, Jordan C.
Zhang, Shifa
Abeysuriya, Disna
Ades, Lesley C.
Amor, David J.
Arbuckle, Susan
Bakshi, Madhura
Barnete, Christopher P.
Berry, Bligh
Boughtwood, Tiffany
Bournazos, Adam
Bray, Alessandra
Chan, Fiona
Chan, Yuen
Chung, Clara
Clark, Jonathan
Collett, Jackie
Colley, Alison
Collins, Felicity
Cooper, Sandra
Corbett, Mark A.
Dahlstrom, Jane E.
Dargaville, Peter
Davies, Janene
Davis, Tenielle
Dearman, Jarrad
Dissanayake, Jayanthi
Dobbins, Julia
Doyle, Helen
Dubowsky, Andrew
Edwards, Matt
Ewans, Lisa J.
Fadia, Mitali
Fennell, Andrew
Finlay, Ken
French, Andrew
Friend, Kathryn
Gardner, Alison E.
Gecz, Jozef
Graf, Nicole
Haan, Eric A.
Hollingsworth, Georgina
Horton, Ari E.
Howting, Denise
Hunter, Matthew F.
Jevon, Gareth
Kamien, Benjamin
Kennedy, Debra
Krivanek, Michael
Kroes, Thessa
Krzesinski, Emma, I
Kwan, Edward
Lau, Stephanie
LeBlanc, Shannon
Liebelt, Jan
Lindsey-Temple, Suzanna
Loo, Christine K. C.
Low, Julia
Mallawaarachchi, Amali
Matsika, Admire
Mattiske, Tessa
McGaughran, Julie
McGregor, Lesley
Mittal, Namita
Moghimi, Ali
Albayrak, Hatice Mutlu
Ng, Jessica
Nicholl, Jillian
Pachter, Nicholas
Papadimitriou, John
Parker, Renae
Parsons, Sarah
Patel, Chirag
Pawlowski, Rhonda
Perez-Jurado, Luis A.
Pinner, Jason R.
Politis, Katerina
Poulton, Cathryn
Power, Theresa
Quinn, Michael
Rajagopalan, Sulekha
Regan, Matthew
Rodgers, Jonathan
Rorke, Steuart
Sachdev, Rani
Sallevelt, Suzanne
Sandaradura, Sarah A.
Shamassi, Maryam
Shamon, Roshan
Sherburn, Isabella
Slee, Ennie
Solinas, Annalisa
Sugo, Ella
Thompson, Elizabeth
Tripathy, Sagarika
Vasudevan, Anand
Vazquez, Melisa
Verma, Kunal
Viki, Mthulisi
Wallis, Mathew
Webber, Dani L.
Weber, Martin
Whale, Karen
Wilson, Meredith
Worgan, Lisa
Yu, Sui
Brd Inst Ctr Mendelian Genomics
Genomic Autopsy Study Res Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Nature)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
9
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms 미리보기

학술저널

issue
MOLECULAR GENETICS & GENOMIC MEDICINE; JUN 2019, 7 6, pUNSP e676 7p.
Author
Cassini, Thomas A.
Duncan, Laura
Rives, Lynette C.
Newman, John H.
Phillips, John A.
Koziura, Mary E.
Brault, Jennifer
Hamid, Rizwan
Cogan, Joy
Adams, Christopher J.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mashid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chao, Katherine R.
Chen, Shan
Clark, Gary D.
Cooper, Cynthia M.
Craigen, William J.
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Draper, David D.
Dries, Annika M.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Fisher, Paul G.
Frisby, Trevor S.
Frost, Kate
Gahl, William A.
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Goldstein, David B.
Gordon, Mary G.
Gould, Sarah E.
Gourdine, JeanPhilippe F.
Graham, Brett H.
Groden, Catherine A.
Gropman, Andrea L.
Hackbarth, Mary E.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Hardee, Isabel
Herzog, Matthew R.
Holm, Ingrid A.
Howerton, Ellen M.
Jacob, Howard J.
Jain, Mahim
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Koehler, Alanna E.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Lazar, Jozef
Lee, Brendan H.
Lee, Hane
Lee, Paul R.
Levy, Shawn E.
Levy, Denise J.
Lewis, Richard A.
Liebendorfer, Adam P.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Mazur, Paul
McCarty, Alexandra J.
McConkie-Rosell, Allyn
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Pena, Loren D. M.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Ramoni, Rachel B.
Rodan, Lance H.
Rosenfeld, Jill A.
Sadozai, Sarah
Samson, Susan L.
Schaffer, Katherine E.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Soldatos, Ariane G.
Spillmann, Rebecca C.
Splinter, Kimberly
Stoler, Joan M.
Stong, Nicholas
Strong, Kimberly A.
Sullivan, Jennifer A.
Sweetser, David A.
Thomas, Sara P.
Tifft, Cynthia J.
Tolman, Nathanial J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Wangler, Michael F.
Warburton, Mike
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Weech, Alec A.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zhang, Jing
Zornio, Patricia A.
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Open Access (Wiley)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
10
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells 미리보기

학술저널

issue
MOLECULAR GENETICS & GENOMIC MEDICINE; JUN 2019, 7 6, pUNSP e686 8p.
Author
Newman, John H.
Shaver, Aaron
Sheehan, Jonathan H.
Mallal, Simon
Stone, John H.
Pillai, Shiv
Bastarache, Lisa
Riebau, Derek
Allard-Chamard, Hugues
Stone, William M.
Perugino, Cory
Pilkinton, Mark
Smith, Scott A.
McDonnell, Wyatt J.
Capra, John A.
Meiler, Jens
Cogan, Joy
Xing, Kelly
Mahajan, Vinay S.
Mattoo, Hamid
Hamid, Rizwan
Phillips, John A., III
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bernstein, Jonathan A.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Davidson, Jean M.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika M.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Enns, Gregory M.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica M.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Herzog, Matthew R.
High, Francis
Holm, Ingrid A.
Hom, Jason
Howerton, Ellen M.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Korrick, Susan
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
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.
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palme, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D. M.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe M.
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K-G
Tiffs, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Open Access (Wiley)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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