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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...American journal of human genetics, 2012-02, Vol.90 (2), p.308-313
- Hood, Rebecca L.
- Lines, Matthew A.
- Nikkel, Sarah M.
- Schwartzentruber, Jeremy
- Beaulieu, Chandree
- Nowaczyk, Małgorzata J.M.
- Allanson, Judith
- Kim, Chong Ae
- Wieczorek, Dagmar
- Moilanen, Jukka S.
- Lacombe, Didier
- Gillessen-Kaesbach, Gabriele
- Whiteford, Margo L.
- Quaio, Caio Robledo D.C.
- Gomy, Israel
- Bertola, Debora R.
- Albrecht, Beate
- Platzer, Konrad
- McGillivray, George
- Zou, Ruobing
- McLeod, D. Ross
- Chudley, Albert E.
- Chodirker, Bernard N.
- Marcadier, Janet
- Majewski, Jacek
- Bulman, Dennis E.
- White, Susan M.
- Boycott, Kym M.
2012
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American journal of medical genetics. Part C, Seminars in medical genetics, 2012-11, Vol.160C (4), p.250-262
2012
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Genetics in medicine, 2019-04, Vol.21 (4), p.816-825
- Pizzo, Lucilla
- Jensen, Matthew
- Polyak, Andrew
- Rosenfeld, Jill A.
- Mannik, Katrin
- Krishnan, Arjun
- McCready, Elizabeth
- Pichon, Olivier
- Le Caignec, Cedric
- Van Dijck, Anke
- Pope, Kate
- Voorhoeve, Els
- Yoon, Jieun
- Stankiewicz, Paweł
- Cheung, Sau Wai
- Pazuchanics, Damian
- Huber, Emily
- Kumar, Vijay
- Kember, Rachel L.
- Mari, Francesca
- Curró, Aurora
- Castiglia, Lucia
- Galesi, Ornella
- Avola, Emanuela
- Mattina, Teresa
- Fichera, Marco
- Mandarà, Luana
- Vincent, Marie
- Nizon, Mathilde
- Mercier, Sandra
- Bénéteau, Claire
- Blesson, Sophie
- Martin-Coignard, Dominique
- Mosca-Boidron, Anne-Laure
- Caberg, Jean-Hubert
- Bucan, Maja
- Zeesman, Susan
- Nowaczyk, Małgorzata J. M.
- Lefebvre, Mathilde
- Faivre, Laurence
- Callier, Patrick
- Skinner, Cindy
- Keren, Boris
- Perrine, Charles
- Prontera, Paolo
- Marle, Nathalie
- Renieri, Alessandra
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- Kooy, R. Frank
- Isidor, Bertrand
- Schwartz, Charles
- Romano, Corrado
- Sistermans, Erik
- Amor, David J.
- Andrieux, Joris
- Girirajan, Santhosh
2019
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American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.2016-2019
2013
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American journal of human genetics, 2013-11, Vol.93 (5), p.798-811
2013
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American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1941-1947
2012
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American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1832-1836
2012
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Genetics in medicine, 2012-10, Vol.14 (10), p.868-876
- Campbell, Ian M.
- Yatsenko, Svetlana A.
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- Lupski, James R.
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2012
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Nature genetics, 2012-04, Vol.44 (4), p.440-444
- Rivière, Jean-Baptiste
- van Bon, Bregje W M
- Hoischen, Alexander
- Kholmanskikh, Stanislav S
- O'Roak, Brian J
- Gilissen, Christian
- Gijsen, Sabine
- Sullivan, Christopher T
- Christian, Susan L
- Abdul-Rahman, Omar A
- Atkin, Joan F
- Chassaing, Nicolas
- Drouin-Garraud, Valerie
- Fry, Andrew E
- Fryns, Jean-Pierre
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- Mancini, Grazia M S
- Nowaczyk, Małgorzata J M
- van Ravenswaaij-Arts, Conny M A
- Roscioli, Tony
- Marble, Michael
- Rosenfeld, Jill A
- Siu, Victoria M
- de Vries, Bert B A
- Shendure, Jay
- Verloes, Alain
- Veltman, Joris A
- Brunner, Han G
- Ross, M Elizabeth
- Pilz, Daniela T
- Dobyns, William B
2012
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American journal of human genetics, 2016-03, Vol.98 (3), p.579-587
- Bennett, James T.
- Tan, Tiong Yang
- Alcantara, Diana
- Tétrault, Martine
- Timms, Andrew E.
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- Christensen, Katherine M.
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- Hennekam, Raoul C.M.
- Chung, Brian
- Lehman, Anna
- Su, John
- Ng, SuYuen
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- Majewski, Jacek
- Biesecker, Les G.
- Boycott, Kym M.
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- O’Driscoll, Mark
- Moog, Ute
- McDonell, Laura M.
2016
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American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2274-2279
2009
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Genetics in medicine, 2017-01, Vol.19 (1), p.53-61
- Lowther, Chelsea
- Speevak, Marsha
- Armour, Christine M.
- Goh, Elaine S.
- Graham, Gail E.
- Li, Chumei
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- Tarnopolsky, Mark A.
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- Dick, Paul T.
- Hussain, Asmaa S.
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- Reijenga, Renske G.
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- Lionel, Anath C.
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2017
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Canadian Medical Association journal (CMAJ), 2014-09, Vol.186 (13), p.1019-1019
2014
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Genetics in medicine, 2015-06, Vol.17 (6), p.460-466
- De Rocker, Nina
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- Jacobs, Eva
- Hoischen, Alexander
- Zeesman, Susan
- Bang, Birgitte
- Béna, Frédérique
- Bockaert, Nele
- Bongers, Ernie M.
- de Ravel, Thomy
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- Faivre, Laurence
- Joss, Shelagh
- Maas, Saskia
- Marle, Nathalie
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- Nowaczyk, Malgorzata J.M.
- Peeters, Hilde
- Polstra, Abeltje
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- Rosenberg, Carla
- Thevenon, Julien
- Tümer, Zeynep
- Vanhauwaert, Suzanne
- Varvagiannis, Konstantinos
- Willaert, Andy
- Willemsen, Marjolein
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- Zuffardi, Orsetta
- Coucke, Paul
- Speleman, Frank
- Eichler, Evan E.
- Kleefstra, Tjitske
- Menten, Björn
2015
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American journal of medical genetics, 2003-07, Vol.120A (2), p.229-233
2003
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American journal of human genetics, 2021-06, Vol.108 (6), p.1053-1068
- Rots, Dmitrijs
- Chater-Diehl, Eric
- Dingemans, Alexander J.M.
- 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 B.A.
- Deden, A. Chantal
- Leenders, Erika
- Kwint, Michael
- Stumpel, Constance T.R.M.
- Stevens, Servi J.C.
- Vermeulen, Jeroen R.
- van Harssel, Jeske V.T.
- Bosch, Danielle G.M.
- van Gassen, Koen L.I.
- 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
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- Ritter, Alyssa
- Bhoj, Elizabeth
- Tønne, Elin
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- Brunetti-Pierri, Nicola
- Rowe, Leah
- Bunn, Jason
- Saenz, Margarita
- Platzer, Konrad
- Mertens, Mareike
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- Nowaczyk, Małgorzata J.M.
- Cohn, Ronald D.
- Kannu, Peter
- Alkhunaizi, Ebba
- Chitayat, David
- Scherer, Stephen W.
- Brunner, Han G.
- Vissers, Lisenka E.L.M.
- Kleefstra, Tjitske
- Koolen, David A.
- Weksberg, Rosanna
2021
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Human genetics, 2021-04, Vol.140 (4), p.681-690
2021
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American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.126-134
2017
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Pediatric and developmental pathology, 2013-03, Vol.16 (2), p.97-101
2013
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Canadian journal of general internal medicine, 2019-08, Vol.14 (3), p.4
2019
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American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1583-1585
2010
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JCI insight, 2016-03, Vol.1 (3)
- Bagheri, Hani
- Badduke, Chansonette
- Qiao, Ying
- Colnaghi, Rita
- Abramowicz, Iga
- Alcantara, Diana
- Dunham, Christopher
- Wen, Jiadi
- Wildin, Robert S.
- Nowaczyk, Malgorzata J.M.
- Eichmeyer, Jennifer
- Lehman, Anna
- Maranda, Bruno
- Martell, Sally
- Shan, Xianghong
- Lewis, Suzanne M.E.
- O’Driscoll, Mark
- Gregory-Evans, Cheryl Y.
- Rajcan-Separovic, Evica
2016
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Biochemical journal, 2002-05, Vol.364 (Pt 1), p.157-163
2002
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Science advances, 2021-05, Vol.7 (20)
- Li, Dong
- Wang, Qin
- Gong, Naihua N
- Kurolap, Alina
- Feldman, Hagit Baris
- Boy, Nikolas
- Brugger, Melanie
- Grand, Katheryn
- McWalter, Kirsty
- Guillen Sacoto, Maria J
- Wakeling, Emma
- Hurst, Jane
- March, Michael E
- Bhoj, Elizabeth J
- Nowaczyk, Małgorzata J M
- Gonzaga-Jauregui, Claudia
- Mathew, Mariam
- Dava-Wala, Ashita
- Siemon, Amy
- Bartholomew, Dennis
- Huang, Yue
- Lee, Hane
- Martinez-Agosto, Julian A
- Schwaibold, Eva M C
- Brunet, Theresa
- Choukair, Daniela
- Pais, Lynn S
- White, Susan M
- Christodoulou, John
- Brown, Dana
- Lindstrom, Kristin
- Grebe, Theresa
- Tiosano, Dov
- Kayser, Matthew S
- Tan, Tiong Yang
- Deardorff, Matthew A
- Song, Yuanquan
- Hakonarson, Hakon
2021
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American journal of medical genetics. Part A, 2013-08, Vol.161 (8), p.2016-2019
2013
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