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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Cell, 2012-05, Vol.149 (4), p.912-922
2012
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American journal of human genetics, 2014-03, Vol.94 (3), p.415-425
2014
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Cell, 2014-07, Vol.158 (2), p.263-276
- Bernier, Raphael
- Golzio, Christelle
- Xiong, Bo
- Stessman, Holly A.
- Coe, Bradley P.
- Penn, Osnat
- Witherspoon, Kali
- Gerdts, Jennifer
- Baker, Carl
- Vulto-van Silfhout, Anneke T.
- Schuurs-Hoeijmakers, Janneke H.
- Fichera, Marco
- Bosco, Paolo
- Buono, Serafino
- Alberti, Antonino
- Failla, Pinella
- Peeters, Hilde
- Steyaert, Jean
- Vissers, Lisenka E.L.M.
- Francescatto, Ludmila
- Mefford, Heather C.
- Rosenfeld, Jill A.
- Bakken, Trygve
- O’Roak, Brian J.
- Pawlus, Matthew
- Moon, Randall
- Shendure, Jay
- Amaral, David G.
- Lein, Ed
- Rankin, Julia
- Romano, Corrado
- de Vries, Bert B.A.
- Katsanis, Nicholas
- Eichler, Evan E.
2014
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The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31
2017
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Molecular cell, 2015-09, Vol.59 (6), p.956-969
- Hao, Yi-Heng
- Fountain, Michael D.
- Fon Tacer, Klementina
- Xia, Fan
- Bi, Weimin
- Kang, Sung-Hae L.
- Patel, Ankita
- Rosenfeld, Jill A.
- Le Caignec, Cédric
- Isidor, Bertrand
- Krantz, Ian D.
- Noon, Sarah E.
- Pfotenhauer, Jean P.
- Morgan, Thomas M.
- Moran, Rocio
- Pedersen, Robert C.
- Saenz, Margarita S.
- Schaaf, Christian P.
- Potts, Patrick Ryan
2015
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PLoS genetics, 2017-07, Vol.13 (7), p.e1006905
- Luo, Xi
- Rosenfeld, Jill A
- Yamamoto, Shinya
- Harel, Tamar
- Zuo, Zhongyuan
- Hall, Melissa
- Wierenga, Klaas J
- Pastore, Matthew T
- Bartholomew, Dennis
- Delgado, Mauricio R
- Rotenberg, Joshua
- Lewis, Richard Alan
- Emrick, Lisa
- Bacino, Carlos A
- Eldomery, Mohammad K
- Coban Akdemir, Zeynep
- Xia, Fan
- Yang, Yaping
- Lalani, Seema R
- Lotze, Timothy
- Lupski, James R
- Lee, Brendan
- Bellen, Hugo J
- Wangler, Michael F
- Lu, Bingwei
2017
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Genome medicine, 2015-08, Vol.7 (1), p.94-94, Article 94
2015
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The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-13
2021
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American journal of human genetics, 2013-11, Vol.93 (5), p.798-811
2013
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Genetics in medicine, 2013-06, Vol.15 (6), p.478-481
2013
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Nature genetics, 2011-09, Vol.43 (9), p.838-846
- Hamid, Rizwan
- Baker, Carl
- McCracken, Elizabeth
- Stalker, Heather
- Eichler, Evan E
- Hummel, Marybeth
- Ballif, Blake C
- Coe, Bradley P
- Bader, Patricia
- Girirajan, Santhosh
- Kussmann, Jennifer
- Rosenfeld, Jill A
- Cooper, Gregory M
- Shashi, Vandana
- Abdel-Hamid, Hoda
- Williams, Charles
- Leppig, Kathleen
- Alexander, Nora
- Gorski, Jerome
- Niyazov, Dmitriy
- Hannig, Vickie
- Rehder, Catherine
- Shaffer, Lisa G
- Johnson, Krys
- Thiese, Heidi
- Vu, Tiffany H
2011
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Cell, 2012-04, Vol.149 (3), p.525-537
- Talkowski, Michael E.
- Rosenfeld, Jill A.
- Blumenthal, Ian
- Pillalamarri, Vamsee
- Chiang, Colby
- Heilbut, Adrian
- Ernst, Carl
- Hanscom, Carrie
- Rossin, Elizabeth
- Lindgren, Amelia M.
- Pereira, Shahrin
- Ruderfer, Douglas
- Kirby, Andrew
- Ripke, Stephan
- Harris, David J.
- Lee, Ji-Hyun
- Ha, Kyungsoo
- Kim, Hyung-Goo
- Solomon, Benjamin D.
- Gropman, Andrea L.
- Lucente, Diane
- Sims, Katherine
- Ohsumi, Toshiro K.
- Borowsky, Mark L.
- Loranger, Stephanie
- Quade, Bradley
- Lage, Kasper
- Miles, Judith
- Wu, Bai-Lin
- Shen, Yiping
- Neale, Benjamin
- Shaffer, Lisa G.
- Daly, Mark J.
- Morton, Cynthia C.
- Gusella, James F.
2012
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Annual review of medicine, 2022-01, Vol.73 (1), p.575-585
2022
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American journal of human genetics, 2018-06, Vol.102 (6), p.1126-1142
- Poli, M. Cecilia
- Ebstein, Frédéric
- Nicholas, Sarah K.
- de Guzman, Marietta M.
- Forbes, Lisa R.
- Chinn, Ivan K.
- Mace, Emily M.
- Vogel, Tiphanie P.
- Carisey, Alexandre F.
- Benavides, Felipe
- Coban-Akdemir, Zeynep H.
- Gibbs, Richard A.
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Carvalho, Claudia M.B.
- Schady, Deborah A.
- Jain, Mahim
- Rosenfeld, Jill A.
- Emrick, Lisa
- Lewis, Richard A.
- Lee, Brendan
- Zieba, Barbara A.
- Küry, Sébastien
- Krüger, Elke
- Lupski, James R.
- Bostwick, Bret L.
- Orange, Jordan S.
2018
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Nature communications, 2023-08, Vol.14 (1), p.4623-4623, Article 4623
2023
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Blood, 2022-02, Vol.139 (7), p.1039-1051
- Sharma, Richa
- Sahoo, Sushree S.
- Honda, Masayoshi
- Granger, Sophie L.
- Goodings, Charnise
- Sanchez, Louis
- Künstner, Axel
- Busch, Hauke
- Beier, Fabian
- Pruett-Miller, Shondra M.
- Valentine, Marcus B.
- Fernandez, Alfonso G.
- Chang, Ti-Cheng
- Géli, Vincent
- Churikov, Dmitri
- Hirschi, Sandrine
- Pastor, Victor B.
- Boerries, Melanie
- Lauten, Melchior
- Kelaidi, Charikleia
- Cooper, Megan A.
- Nicholas, Sarah
- Rosenfeld, Jill A.
- Polychronopoulou, Sophia
- Kannengiesser, Caroline
- Saintomé, Carole
- Niemeyer, Charlotte M.
- Revy, Patrick
- Wold, Marc S.
- Spies, Maria
- Erlacher, Miriam
- Coulon, Stéphane
- Wlodarski, Marcin W.
2022
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American journal of human genetics, 2016-10, Vol.99 (4), p.934-941
- Weiss, Karin
- Terhal, Paulien A.
- Cohen, Lior
- Bruccoleri, Michael
- Irving, Melita
- Martinez, Ariel F.
- Rosenfeld, Jill A.
- Machol, Keren
- Yang, Yaping
- Liu, Pengfei
- Walkiewicz, Magdalena
- Beuten, Joke
- Gomez-Ospina, Natalia
- Haude, Katrina
- Fong, Chin-To
- Enns, Gregory M.
- Bernstein, Jonathan A.
- Fan, Judith
- Gotway, Garrett
- Ghorbani, Mohammad
- van Gassen, Koen
- Monroe, Glen R.
- van Haaften, Gijs
- Basel-Vanagaite, Lina
- Yang, Xiang-Jiao
- Campeau, Philippe M.
- Muenke, Maximilian
2016
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Neuron (Cambridge, Mass.), 2020-05, Vol.106 (4), p.589-606.e6
- Chung, Hyung-lok
- Wangler, Michael F.
- Marcogliese, Paul C.
- Jo, Juyeon
- Ravenscroft, Thomas A.
- Zuo, Zhongyuan
- Duraine, Lita
- Sadeghzadeh, Sina
- Li-Kroeger, David
- Schmidt, Robert E.
- Pestronk, Alan
- Rosenfeld, Jill A.
- Burrage, Lindsay
- Herndon, Mitchell J.
- Chen, Shan
- Shillington, Amelle
- Vawter-Lee, Marissa
- Hopkin, Robert
- Rodriguez-Smith, Jackeline
- Henrickson, Michael
- Lee, Brendan
- Moser, Ann B.
- Jones, Richard O.
- Watkins, Paul
- Yoo, Taekyeong
- Mar, Soe
- Choi, Murim
- Bucelli, Robert C.
- Yamamoto, Shinya
- Lee, Hyun Kyoung
- Prada, Carlos E.
- Chae, Jong-Hee
- Vogel, Tiphanie P.
- Bellen, Hugo J.
2020
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American journal of human genetics, 2020-12, Vol.107 (6), p.1096-1112
- Barish, Scott
- Barakat, Tahsin Stefan
- Michel, Brittany C.
- Mashtalir, Nazar
- Phillips, Jennifer B.
- Valencia, Alfredo M.
- Ugur, Berrak
- Wegner, Jeremy
- Scott, Tiana M.
- Bostwick, Brett
- Murdock, David R.
- Dai, Hongzheng
- Perenthaler, Elena
- Nikoncuk, Anita
- van Slegtenhorst, Marjon
- Brooks, Alice S.
- Keren, Boris
- Nava, Caroline
- Mignot, Cyril
- Douglas, Jessica
- Rodan, Lance
- Nowak, Catherine
- Ellard, Sian
- Stals, Karen
- Lynch, Sally Ann
- Faoucher, Marie
- Lesca, Gaetan
- Edery, Patrick
- Engleman, Kendra L.
- Zhou, Dihong
- Thiffault, Isabelle
- Herriges, John
- Gass, Jennifer
- Louie, Raymond J.
- Stolerman, Elliot
- Washington, Camerun
- Vetrini, Francesco
- Otsubo, Aiko
- Pratt, Victoria M.
- Conboy, Erin
- Treat, Kayla
- Shannon, Nora
- Camacho, Jose
- Wakeling, Emma
- Yuan, Bo
- Chen, Chun-An
- Rosenfeld, Jill A.
- Westerfield, Monte
- Wangler, Michael
- Yamamoto, Shinya
- Kadoch, Cigall
- Scott, Daryl A.
- Bellen, Hugo J.
2020
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Annual review of medicine, 2013-01, Vol.64 (1), p.441-450
2013
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American journal of human genetics, 2016-02, Vol.98 (2), p.347-357
- Lalani, Seema R.
- Liu, Pengfei
- Rosenfeld, Jill A.
- Watkin, Levi B.
- Chiang, Theodore
- Leduc, Magalie S.
- Zhu, Wenmiao
- Ding, Yan
- Pan, Shujuan
- Vetrini, Francesco
- Miyake, Christina Y.
- Shinawi, Marwan
- Gambin, Tomasz
- Eldomery, Mohammad K.
- Akdemir, Zeynep Hande Coban
- Emrick, Lisa
- Wilnai, Yael
- Schelley, Susan
- Koenig, Mary Kay
- Memon, Nada
- Farach, Laura S.
- Coe, Bradley P.
- Azamian, Mahshid
- Hernandez, Patricia
- Zapata, Gladys
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Lotze, Timothy
- Clark, Gary
- Wilfong, Angus
- Northrup, Hope
- Adesina, Adekunle
- Bacino, Carlos A.
- Scaglia, Fernando
- Bonnen, Penelope E.
- Crosson, Jane
- Duis, Jessica
- Maegawa, Gustavo H.B.
- Coman, David
- Inwood, Anita
- McGill, Jim
- Boerwinkle, Eric
- Graham, Brett
- Beaudet, Art
- Eng, Christine M.
- Hanchard, Neil A.
- Xia, Fan
- Orange, Jordan S.
- Gibbs, Richard A.
- Lupski, James R.
- Yang, Yaping
2016
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American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010
- Petrovski, Slavé
- Küry, Sébastien
- Myers, Candace T.
- Anyane-Yeboa, Kwame
- Cogné, Benjamin
- Bialer, Martin
- Xia, Fan
- Hemati, Parisa
- Riviello, James
- Mehaffey, Michele
- Besnard, Thomas
- Becraft, Emily
- Wadley, Alexandrea
- Politi, Anya Revah
- Colombo, Sophie
- Zhu, Xiaolin
- Ren, Zhong
- Andrews, Ian
- Dudding-Byth, Tracy
- Schneider, Amy L.
- Wallace, Geoffrey
- Rosen, Aaron B.I.
- Schelley, Susan
- Enns, Gregory M.
- Corre, Pierre
- Dalton, Joline
- Mercier, Sandra
- Latypova, Xénia
- Schmitt, Sébastien
- Guzman, Edwin
- Moore, Christine
- Bier, Louise
- Heinzen, Erin L.
- Karachunski, Peter
- Shur, Natasha
- Grebe, Theresa
- Basinger, Alice
- Nguyen, Joanne M.
- Bézieau, Stéphane
- Wierenga, Klaas
- Bernstein, Jonathan A.
- Scheffer, Ingrid E.
- Rosenfeld, Jill A.
- Mefford, Heather C.
- Isidor, Bertrand
- Goldstein, David B.
2016
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American journal of human genetics, 2016-03, Vol.98 (3), p.562-570
- Harel, Tamar
- Yesil, Gozde
- Bayram, Yavuz
- Coban-Akdemir, Zeynep
- Charng, Wu-Lin
- Karaca, Ender
- Al Asmari, Ali
- Eldomery, Mohammad K.
- Hunter, Jill V.
- Jhangiani, Shalini N.
- Rosenfeld, Jill A.
- Pehlivan, Davut
- El-Hattab, Ayman W.
- Saleh, Mohammed A.
- LeDuc, Charles A.
- Muzny, Donna
- Boerwinkle, Eric
- Gibbs, Richard A.
- Chung, Wendy K.
- Yang, Yaping
- Belmont, John W.
- Lupski, James R.
2016
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The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480
- Liu, Pengfei
- Meng, Linyan
- Normand, Elizabeth A
- Xia, Fan
- Song, Xiaofei
- Ghazi, Andrew
- Rosenfeld, Jill
- Magoulas, Pilar L
- Braxton, Alicia
- Ward, Patricia
- Dai, Hongzheng
- Yuan, Bo
- Bi, Weimin
- Xiao, Rui
- Wang, Xia
- Chiang, Theodore
- Vetrini, Francesco
- He, Weimin
- Cheng, Hanyin
- Dong, Jie
- Gijavanekar, Charul
- Benke, Paul J
- Bernstein, Jonathan A
- Eble, Tanya
- Eroglu, Yasemen
- Erwin, Deanna
- Escobar, Luis
- Gibson, James B
- Gripp, Karen
- Kleppe, Soledad
- Koenig, Mary K
- Lewis, Andrea M
- Natowicz, Marvin
- Mancias, Pedro
- Minor, LaKeesha
- Scaglia, Fernando
- Schaaf, Christian P
- Streff, Haley
- Vernon, Hilary
- Uhles, Crescenda L
- Zackai, Elaine H
- Wu, Nan
- Sutton, V. Reid
- Beaudet, Arthur L
- Muzny, Donna
- Gibbs, Richard A
- Posey, Jennifer E
- Lalani, Seema
- Shaw, Chad
- Eng, Christine M
- Lupski, James R
- Yang, Yaping
2019
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The New England journal of medicine, 2012-12, Vol.367 (23), p.2226-2232
2012
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