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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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The New England journal of medicine, 2013-05, Vol.368 (19), p.1809-1816
- Laine, Christine M
- Joeng, Kyu Sang
- Campeau, Philippe M
- Kiviranta, Riku
- Tarkkonen, Kati
- Grover, Monica
- Lu, James T
- Pekkinen, Minna
- Wessman, Maija
- Heino, Terhi J
- Nieminen-Pihala, Vappu
- Aronen, Mira
- Laine, Tero
- Kröger, Heikki
- Cole, William G
- Lehesjoki, Anna-Elina
- Nevarez, Lisette
- Krakow, Deborah
- Curry, Cynthia J.R
- Cohn, Daniel H
- Gibbs, Richard A
- Lee, Brendan H
- Mäkitie, Outi
2013
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American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265
- Twigg, Stephen R.F.
- Hufnagel, Robert B.
- Miller, Kerry A.
- Zhou, Yan
- McGowan, Simon J.
- Taylor, John
- Craft, Jude
- Taylor, Jenny C.
- Santoro, Stephanie L.
- Huang, Taosheng
- Hopkin, Robert J.
- Brady, Angela F.
- Clayton-Smith, Jill
- Clericuzio, Carol L.
- Grange, Dorothy K.
- Groesser, Leopold
- Hafner, Christian
- Horn, Denise
- Temple, I. Karen
- Dobyns, William B.
- Curry, Cynthia J.
- Jones, Marilyn C.
- Wilkie, Andrew O.M.
2016
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American journal of human genetics, 2013-07, Vol.93 (1), p.158-166
- Dyment, David A.
- Smith, Amanda C.
- Alcantara, Diana
- Schwartzentruber, Jeremy A.
- Basel-Vanagaite, Lina
- Curry, Cynthia J.
- Temple, I. Karen
- Reardon, William
- Mansour, Sahar
- Haq, Mushfequr R.
- Gilbert, Rodney
- Lehmann, Ordan J.
- Vanstone, Megan R.
- Beaulieu, Chandree L.
- Majewski, Jacek
- Bulman, Dennis E.
- O’Driscoll, Mark
- Boycott, Kym M.
- Innes, A. Micheil
2013
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Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5864), p.816-819
- Rauch, Anita
- Thiel, Christian T
- Schindler, Detlev
- Wick, Ursula
- Crow, Yanick J
- Ekici, Arif B
- van Essen, Anthonie J
- Goecke, Timm O
- Al-Gazali, Lihadh
- Chrzanowska, Krystyna H
- Zweier, Christiane
- Brunner, Han G
- Becker, Kristin
- Curry, Cynthia J
- Dallapiccola, Bruno
- Devriendt, Koenraad
- Dörfler, Arnd
- Kinning, Esther
- Megarbane, André
- Meinecke, Peter
- Semple, Robert K
- Spranger, Stephanie
- Toutain, Annick
- Trembath, Richard C
- Voss, Egbert
- Wilson, Louise
- Hennekam, Raoul
- de Zegher, Francis
- Dörr, Helmuth-Günther
- Reis, André
2008
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2422-2427
2017
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American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2393-2406
2012
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American journal of medical genetics. Part A, 2005-08, Vol.137A (2), p.181-189
2005
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American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151
- Strehle, Eugen-Matthias
- Yu, Linbo
- Rosenfeld, Jill A.
- Donkervoort, Sandra
- Zhou, Yulin
- Chen, Tian-Jian
- Martinez, Jose E.
- Fan, Yao-Shan
- Barbouth, Deborah
- Zhu, Hongbo
- Vaglio, Alicia
- Smith, Rosemarie
- Stevens, Cathy A.
- Curry, Cynthia J.
- Ladda, Roger L.
- Fan, Zheng (Jane)
- Fox, Joyce E.
- Martin, Judith A.
- Abdel-Hamid, Hoda Z.
- McCracken, Elizabeth A.
- McGillivray, Barbara C.
- Masser-Frye, Diane
- Huang, Taosheng
2012
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American journal of human genetics, 2019-09, Vol.105 (3), p.606-615
- Aldinger, Kimberly A.
- Timms, Andrew E.
- Thomson, Zachary
- Mirzaa, Ghayda M.
- Bennett, James T.
- Rosenberg, Alexander B.
- Roco, Charles M.
- Hirano, Matthew
- Abidi, Fatima
- Haldipur, Parthiv
- Cheng, Chi V.
- Collins, Sarah
- Park, Kaylee
- Zeiger, Jordan
- Overmann, Lynne M.
- Alkuraya, Fowzan S.
- Biesecker, Leslie G.
- Braddock, Stephen R.
- Cathey, Sara
- Cho, Megan T.
- Chung, Brian H.Y.
- Everman, David B.
- Zarate, Yuri A.
- Jones, Julie R.
- Schwartz, Charles E.
- Goldstein, Amy
- Hopkin, Robert J.
- Krantz, Ian D.
- Ladda, Roger L.
- Leppig, Kathleen A.
- McGillivray, Barbara C.
- Sell, Susan
- Wusik, Katherine
- Gleeson, Joseph G.
- Nickerson, Deborah A.
- Bamshad, Michael J.
- Gerrelli, Dianne
- Lisgo, Steven N.
- Seelig, Georg
- Ishak, Gisele E.
- Barkovich, A. James
- Curry, Cynthia J.
- Glass, Ian A.
- Millen, Kathleen J.
- Doherty, Dan
- Dobyns, William B.
2019
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American journal of medical genetics. Part A, 2008-12, Vol.146A (23), p.3038-3053
2008
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American journal of human genetics, 2019-09, Vol.105 (3), p.640-657
- Holt, Richard J.
- Young, Rodrigo M.
- Crespo, Berta
- Ceroni, Fabiola
- Curry, Cynthia J.
- Bellacchio, Emanuele
- Bax, Dorine A.
- Ciolfi, Andrea
- Simon, Marleen
- Fagerberg, Christina R.
- van Binsbergen, Ellen
- De Luca, Alessandro
- Memo, Luigi
- Dobyns, William B.
- Mohammed, Alaa Afif
- Clokie, Samuel J.H.
- Zazo Seco, Celia
- Jiang, Yong-Hui
- Sørensen, Kristina P.
- Andersen, Helle
- Sullivan, Jennifer
- Powis, Zöe
- Chassevent, Anna
- Smith-Hicks, Constance
- Petrovski, Slavé
- Antoniadi, Thalia
- Shashi, Vandana
- Gelb, Bruce D.
- Wilson, Stephen W.
- Gerrelli, Dianne
- Tartaglia, Marco
- Chassaing, Nicolas
- Calvas, Patrick
- Ragge, Nicola K.
2019
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American journal of human genetics, 2021-10, Vol.108 (10), p.2017-2023
- Lemire, Gabrielle
- Ito, Yoko A.
- Marshall, Aren E.
- Chrestian, Nicolas
- Stanley, Valentina
- Brady, Lauren
- Tarnopolsky, Mark
- Curry, Cynthia J.
- Hartley, Taila
- Mears, Wendy
- Derksen, Alexa
- Rioux, Nadie
- Laflamme, Nataly
- Hutchison, Harrol T.
- Pais, Lynn S.
- Zaki, Maha S.
- Sultan, Tipu
- Dane, Adrie D.
- Gleeson, Joseph G.
- Vaz, Frédéric M.
- Kernohan, Kristin D.
- Bernard, Geneviève
- Boycott, Kym M.
2021
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European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.420-427
- Wang, Jiyong
- Foroutan, Aidin
- Richardson, Ellen
- Skinner, Steven A
- Reilly, Jack
- Kerkhof, Jennifer
- Curry, Cynthia J
- Tarpey, Patrick S
- Robertson, Stephen P
- Maystadt, Isabelle
- Keren, Boris
- Dixon, Joanne W
- Skinner, Cindy
- Stapleton, Rachel
- Ruaud, Lyse
- Gumus, Evren
- Lakeman, Phillis
- Alders, Mariëlle
- Tedder, Matthew L
- Schwartz, Charles E
- Friez, Michael J
- Sadikovic, Bekim
- Stevenson, Roger E
2022
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2690-2718
2021
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1900-1910
- Wojcik, Monica H.
- Srivastava, Siddharth
- Agrawal, Pankaj B.
- Balci, Tugce B.
- Callewaert, Bert
- Calvo, Pier Luigi
- Carli, Diana
- Caudle, Michelle
- Colaiacovo, Samantha
- Cross, Laura
- Demetriou, Kalliope
- Drazba, Katy
- Dutra‐Clarke, Marina
- Edwards, Matthew
- Genetti, Casie A.
- Grange, Dorothy K.
- Hickey, Scott E.
- Isidor, Bertrand
- Küry, Sébastien
- Lachman, Herbert M.
- Lavillaureix, Alinoe
- Lyons, Michael J.
- Marcelis, Carlo
- Marco, Elysa J.
- Martinez‐Agosto, Julian A.
- Nowak, Catherine
- Pizzol, Antonio
- Planes, Marc
- Prijoles, Eloise J.
- Riberi, Evelise
- Rush, Eric T.
- Russell, Bianca E.
- Sachdev, Rani
- Schmalz, Betsy
- Shears, Deborah
- Stevenson, David A.
- Wilson, Kate
- Jansen, Sandra
- Vries, Bert B. A.
- Curry, Cynthia J.
2023
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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
- Zarate, Yuri A.
- Bosanko, Katherine A.
- Thomas, Mary Ann
- Miller, David T.
- Cusmano‐Ozog, Kristina
- Martinez‐Monseny, Antonio
- Curry, Cynthia J.
- Graham, John M.
- Velsher, Lea
- Bekheirnia, Mir Reza
- Seidel, Veronica
- Dedousis, Demitrios
- Mitchell, Anna L.
- DiMarino, Amy M.
- Riess, Angelika
- Balasubramanian, Meena
- Fish, Jennifer L.
- Caffrey, Aisling R.
- Fleischer, Nicole
- Pierson, Tyler Mark
- Lacro, Ronald V.
2021
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European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.233-236
2013
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American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1833-1852
- Curry, Cynthia J.
- Rosenfeld, Jill A.
- Grant, Erica
- Gripp, Karen W.
- Anderson, Carol
- Aylsworth, Arthur S.
- Saad, Taha Ben
- Chizhikov, Victor V.
- Dybose, Giedre
- Fagerberg, Christina
- Falco, Michelle
- Fels, Christina
- Fichera, Marco
- Graakjaer, Jesper
- Greco, Donatella
- Hair, Jennifer
- Hopkins, Elizabeth
- Huggins, Marlene
- Ladda, Roger
- Li, Chumei
- Moeschler, John
- Nowaczyk, Malgorzata J.M.
- Ozmore, Jillian R.
- Reitano, Santina
- Romano, Corrado
- Roos, Laura
- Schnur, Rhonda E.
- Sell, Susan
- Suwannarat, Pim
- Svaneby, Dea
- Szybowska, Marta
- Tarnopolsky, Mark
- Tervo, Raymond
- Tsai, Anne Chun-Hui
- Tucker, Megan
- Vallee, Stephanie
- Wheeler, Ferrin C
- Zand, Dina J.
- Barkovich, A. James
- Aradhya, Swaroop
- Shaffer, Lisa G.
- Dobyns, William B.
2013
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American journal of medical genetics. Part A, 2007-10, Vol.143A (19), p.2292-2302
2007
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American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.11-18
2016
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American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.158-169
2010
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American journal of medical genetics, 2005-01, Vol.132A (3), p.244-247
2005
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Nature genetics, 1997-09, Vol.17 (1), p.104-108
1997
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The Journal of pediatrics, 2001-06, Vol.138 (6), p.804-810
2001
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