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1
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 미리보기

학술저널

issue
American Journal of Human Genetics. 108(6)
Author
Rots, Dmitrijs
Chater-Diehl, Eric
Dingemans, Alexander JM
Goodman, Sarah J
Siu, Michelle T
Cytrynbaum, Cheryl
Choufani, Sanaa
Hoang, Ny
Walker, Susan
Awamleh, Zain
Charkow, Joshua
Meyn, Stephen
Pfundt, Rolph
Rinne, Tuula
Gardeitchik, Thatjana
de Vries, Bert BA
Deden, A Chantal
Leenders, Erika
Kwint, Michael
Stumpel, Constance TRM
Stevens, Servi JC
Vermeulen, Jeroen R
van Harssel, Jeske VT
Bosch, Danielle GM
van Gassen, Koen LI
van Binsbergen, Ellen
de Geus, Christa M
Brackel, Hein
Hempel, Maja
Lessel, Davor
Denecke, Jonas
Slavotinek, Anne
Strober, Jonathan
Crunk, Amy
Folk, Leandra
Wentzensen, Ingrid M
Yang, Hui
Zou, Fanggeng
Millan, Francisca
Person, Richard
Xie, Yili
Liu, Shuxi
Ousager, Lilian B
Larsen, Martin
Schultz-Rogers, Laura
Morava, Eva
Klee, Eric W
Berry, Ian R
Campbell, Jennifer
Lindstrom, Kristin
Pruniski, Brianna
Neumeyer, Ann M
Radley, Jessica A
Phornphutkul, Chanika
Schmidt, Berkley
Wilson, William G
Õunap, Katrin
Reinson, Karit
Pajusalu, Sander
van Haeringen, Arie
Ruivenkamp, Claudia
Cuperus, Roos
Santos-Simarro, Fernando
Palomares-Bralo, María
Pacio-Míguez, Marta
Ritter, Alyssa
Bhoj, Elizabeth
Tønne, Elin
Tveten, Kristian
Cappuccio, Gerarda
Brunetti-Pierri, Nicola
Rowe, Leah
Bunn, Jason
Saenz, Margarita
Platzer, Konrad
Mertens, Mareike
Caluseriu, Oana
Nowaczyk, Małgorzata JM
Cohn, Ronald D
Kannu, Peter
Alkhunaizi, Ebba
Chitayat, David
Scherer, Stephen W
Brunner, Han G
Vissers, Lisenka ELM
Kleefstra, Tjitske
Koolen, David A
Weksberg, Rosanna
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
5
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder 미리보기

학술저널

issue
GENETICS IN MEDICINE; MAR 2020, 22 3, p538-p546, 9p.
Author
Mirzaa, Ghayda M.
Chong, Jessica X.
Piton, Amelie
Popp, Bernt
Foss, Kimberly
Guo, Hui
Harripaul, Ricardo
Xia, Kun
Scheck, Joshua
Aldinger, Kimberly A.
Sajan, Samin A.
Tang, Sha
Bonneau, Dominique
Beck, Anita
White, Janson
Mahida, Sonal
Harris, Jacqueline
Smith-Hicks, Constance
Hoyer, Juliane
Zweier, Christiane
Reis, Andre
Thiel, Christian T.
Jamra, Rami Abou
Zeid, Natasha
Yang, Amy
Farach, Laura S.
Walsh, Laurence
Payne, Katelyn
Rohena, Luis
Velinov, Milen
Ziegler, Alban
Schaefer, Elise
Gatinois, Vincent
Genevieve, David
Simon, Marleen E. H.
Kohler, Jennefer
Rotenberg, Joshua
Wheeler, Patricia
Larson, Austin
Ernst, Michelle E.
Akman, Cigdem I.
Westman, Rachel
Blanchet, Patricia
Schillaci, Lori-Anne
Vincent-Delorme, Catherine
Gripp, Karen W.
Mattioli, Francesca
Guyader, Gwenael Le
Gerard, Benedicte
Mathieu-Dramard, Michele
Morin, Gilles
Sasanfar, Roksana
Ayub, Muhammad
Vasli, Nasim
Yang, Sandra
Person, Rick
Monaghan, Kristin G.
Nickerson, Deborah A.
van Binsbergen, Ellen
Enns, Gregory M.
Dries, Annika M.
Rowe, Leah J.
Tsai, Anne C. H.
Svihovec, Shayna
Friedman, Jennifer
Agha, Zehra
Qamar, Raheel
Rodan, Lance H.
Martinez-Agosto, Julian
Ockeloen, Charlotte W.
Vincent, Marie
Sunderland, William James
Bernstein, Jonathan A.
Eichler, Evan E.
Vincent, John B.
Bamshad, Michael J.
Undiagnosed Dis Network
UW-CMG
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
6
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder 미리보기

학술저널

issue
GENETICS IN MEDICINE; MAR 2020, 22 3, p538-p546, 9p.
Author
Mirzaa, Ghayda M.
Chong, Jessica X.
Piton, Amelie
Popp, Bernt
Foss, Kimberly
Guo, Hui
Harripaul, Ricardo
Xia, Kun
Scheck, Joshua
Aldinger, Kimberly A.
Sajan, Samin A.
Tang, Sha
Bonneau, Dominique
Beck, Anita
White, Janson
Mahida, Sonal
Harris, Jacqueline
Smith-Hicks, Constance
Hoyer, Juliane
Zweier, Christiane
Reis, Andre
Thiel, Christian T.
Jamra, Rami Abou
Zeid, Natasha
Yang, Amy
Farach, Laura S.
Walsh, Laurence
Payne, Katelyn
Rohena, Luis
Velinov, Milen
Ziegler, Alban
Schaefer, Elise
Gatinois, Vincent
Genevieve, David
Simon, Marleen E. H.
Kohler, Jennefer
Rotenberg, Joshua
Wheeler, Patricia
Larson, Austin
Ernst, Michelle E.
Akman, Cigdem I.
Westman, Rachel
Blanchet, Patricia
Schillaci, Lori-Anne
Vincent-Delorme, Catherine
Gripp, Karen W.
Mattioli, Francesca
Guyader, Gwenael Le
Gerard, Benedicte
Mathieu-Dramard, Michele
Morin, Gilles
Sasanfar, Roksana
Ayub, Muhammad
Vasli, Nasim
Yang, Sandra
Person, Rick
Monaghan, Kristin G.
Nickerson, Deborah A.
van Binsbergen, Ellen
Enns, Gregory M.
Dries, Annika M.
Rowe, Leah J.
Tsai, Anne C. H.
Svihovec, Shayna
Friedman, Jennifer
Agha, Zehra
Qamar, Raheel
Rodan, Lance H.
Martinez-Agosto, Julian
Ockeloen, Charlotte W.
Vincent, Marie
Sunderland, William James
Bernstein, Jonathan A.
Eichler, Evan E.
Vincent, John B.
Bamshad, Michael J.
Undiagnosed Dis Network
UW-CMG
DB Label
Database : Social Sciences Citation Index
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
7
De novo and inherited variants in ZNF292underlie a neurodevelopmental disorder with features of autism spectrum disorder 미리보기

정기출판물

issue
Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p538-546, 9p
Author
Mirzaa, Ghayda M.
Chong, Jessica X.
Piton, Amélie
Popp, Bernt
Foss, Kimberly
Guo, Hui
Harripaul, Ricardo
Xia, Kun
Scheck, Joshua
Aldinger, Kimberly A.
Sajan, Samin A.
Tang, Sha
Bonneau, Dominique
Beck, Anita
White, Janson
Mahida, Sonal
Harris, Jacqueline
Smith-Hicks, Constance
Hoyer, Juliane
Zweier, Christiane
Reis, André
Thiel, Christian T.
Jamra, Rami Abou
Zeid, Natasha
Yang, Amy
Farach, Laura S.
Walsh, Laurence
Payne, Katelyn
Rohena, Luis
Velinov, Milen
Ziegler, Alban
Schaefer, Elise
Gatinois, Vincent
Geneviève, David
Simon, Marleen E.H.
Kohler, Jennefer
Rotenberg, Joshua
Wheeler, Patricia
Larson, Austin
Ernst, Michelle E.
Akman, Cigdem I.
Westman, Rachel
Blanchet, Patricia
Schillaci, Lori-Anne
Vincent-Delorme, Catherine
Gripp, Karen W.
Mattioli, Francesca
Guyader, Gwenaël Le
Gerard, Bénédicte
Mathieu-Dramard, Michèle
Morin, Gilles
Sasanfar, Roksana
Ayub, Muhammad
Vasli, Nasim
Yang, Sandra
Person, Rick
Monaghan, Kristin G.
Nickerson, Deborah A.
van Binsbergen, Ellen
Enns, Gregory M.
Dries, Annika M.
Rowe, Leah J.
Tsai, Anne C.H.
Svihovec, Shayna
Friedman, Jennifer
Agha, Zehra
Qamar, Raheel
Rodan, Lance H.
Martinez-Agosto, Julian
Ockeloen, Charlotte W.
Vincent, Marie
Sunderland, William James
Bernstein, Jonathan A.
Eichler, Evan E.
Vincent, John B.
Bamshad, Michael J.
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
9
The Air Superiority Knowledge Assessment System: Transforming the Way the Warfighter Trains 미리보기

학술저널

issue
MILITARY PSYCHOLOGY; 2013, 25 3, p234-p243, 10p.
Author
Rowe, Leah J.
Gehr, Sara Elizabeth
DB Label
Database : Social Sciences Citation Index
원문보기
등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
1 2 3 
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