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Leukemia, 2011-03, Vol.25 (3), p.429-439
2011
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Leukemia, 2012-04, Vol.26 (4), p.682-692
2012
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Haematologica (Roma), 2010-10, Vol.95 (10), p.1675-1682
2010
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Clinical genetics, 2012-08, Vol.82 (2), p.121-130
2012
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Human mutation, 2011-02, Vol.32 (2), p.E2018-E2025
- Paulussen, Aimée D.C
- Stegmann, Alexander P.A
- Blok, Marinus J
- Tserpelis, Demis
- Posma-Velter, Crool
- Detisch, Yvonne
- Smeets, Eric E.J.G.L
- Wagemans, Annemieke
- Schrander, Jaap J.P
- van den Boogaard, Marie-José H
- van der Smagt, Jasper
- van Haeringen, Arie
- Stolte-Dijkstra, Irene
- Kerstjens-Frederikse, Wilhelmina S
- Mancini, Grazia M
- Wessels, Marja W
- Hennekam, Raoul C.M
- Vreeburg, Maaike
- Geraedts, Joep
- de Ravel, Thomy
- Fryns, Jean-Pierre
- Smeets, Hubert J
- Devriendt, Koenraad
- Schrander-Stumpel, Constance T.R.M
2011
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Genetics in medicine, 2021-04, Vol.23 (4), p.645-652
- Polla, D.L.
- Bhoj, E.J.
- Verheij, J.B.G.M.
- Wassink-Ruiter, J.S. Klein
- Reis, A.
- Deshpande, C.
- Gregor, A.
- Hill-Karfe, K.
- Silfhout, A.T. Vulto-van
- Pfundt, R.
- Bongers, E.M.H.F.
- Hakonarson, H.
- Berland, S.
- Gradek, G.
- Banka, S.
- Chandler, K.
- Gompertz, L.
- Huffels, S.C.
- Stumpel, C.T.R.M.
- Wennekes, R.
- Stegmann, A.P.A.
- Reardon, W.
- Leenders, E.K.S.M.
- de Vries, B.B.A.
- Li, D.
- Zackai, E.
- Ragge, N.
- Lynch, S.A.
- Cuddapah, S.
- van Bokhoven, H.
- Zweier, C.
- de Brouwer, A.P.M.
2021
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European journal of medical genetics, 2017-09, Vol.60 (9), p.465-473
2017
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Npj genomic medicine, 2021-11, Vol.6 (1), p.95-95, Article 95
- Koster, R.
- Brandão, R. D.
- Tserpelis, D.
- van Roozendaal, C. E. P.
- van Oosterhoud, C. N.
- Claes, K. B. M.
- Paulussen, A. D. C.
- Sinnema, M.
- Vreeburg, M.
- van der Schoot, V.
- Stumpel, C. T. R. M.
- Broen, M. P. G.
- Spruijt, L.
- Jongmans, M. C. J.
- Lesnik Oberstein, S. A. J.
- Plomp, A. S.
- Misra-Isrie, M.
- Duijkers, F. A.
- Louwers, M. J.
- Szklarczyk, R.
- Derks, K. W. J.
- Brunner, H. G.
- van den Wijngaard, A.
- van Geel, M.
- Blok, M. J.
2021
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Journal of medical genetics, 2006-04, Vol.43 (4), p.362-370
2006
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Journal of medical genetics, 2009-06, Vol.46 (6), p.389-398
- Lacbawan, F
- Solomon, B D
- Roessler, E
- El-Jaick, K
- Domené, S
- Vélez, J I
- Zhou, N
- Hadley, D
- Balog, J Z
- Long, R
- Fryer, A
- Smith, W
- Omar, S
- McLean, S D
- Clarkson, K
- Lichty, A
- Clegg, N J
- Delgado, M R
- Levey, E
- Stashinko, E
- Potocki, L
- VanAllen, M I
- Clayton-Smith, J
- Donnai, D
- Bianchi, D W
- Juliusson, P B
- Njølstad, P R
- Brunner, H G
- Carey, J C
- Hehr, U
- Müsebeck, J
- Wieacker, P F
- Postra, A
- Hennekam, R C M
- van den Boogaard, M-J H
- van Haeringen, A
- Paulussen, A
- Herbergs, J
- Schrander-Stumpel, C T R M
- Janecke, A R
- Chitayat, D
- Hahn, J
- McDonald-McGinn, D M
- Zackai, E H
- Dobyns, W B
- Muenke, M
2009
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The journal of clinical endocrinology and metabolism, 2008-11, Vol.93 (11), p.4183-4197
2008
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Journal of medical genetics, 2007-09, Vol.44 (9), p.562-jmg
2007
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American journal of human genetics, 2014-05, Vol.94 (5), p.734-744
- McMillin, Margaret J.
- Beck, Anita E.
- Chong, Jessica X.
- Shively, Kathryn M.
- Buckingham, Kati J.
- Gildersleeve, Heidi I.S.
- Aracena, Mariana I.
- Aylsworth, Arthur S.
- Bitoun, Pierre
- Carey, John C.
- Clericuzio, Carol L.
- Crow, Yanick J.
- Curry, Cynthia J.
- Devriendt, Koenraad
- Everman, David B.
- Fryer, Alan
- Gibson, Kate
- Giovannucci Uzielli, Maria Luisa
- Graham, John M.
- Hall, Judith G.
- Hecht, Jacqueline T.
- Heidenreich, Randall A.
- Hurst, Jane A.
- Irani, Sarosh
- Krapels, Ingrid P.C.
- Leroy, Jules G.
- Mowat, David
- Plant, Gordon T.
- Robertson, Stephen P.
- Schorry, Elizabeth K.
- Scott, Richard H.
- Seaver, Laurie H.
- Sherr, Elliott
- Splitt, Miranda
- Stewart, Helen
- Stumpel, Constance
- Temel, Sehime G.
- Weaver, David D.
- Whiteford, Margo
- Williams, Marc S.
- Tabor, Holly K.
- Smith, Joshua D.
- Shendure, Jay
- Nickerson, Deborah A.
- Bamshad, Michael J.
2014
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Clinical genetics, 2013-01, Vol.83 (1), p.73-77
2013
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American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3069-3082
- Fergelot, Patricia
- Van Belzen, Martine
- Van Gils, Julien
- Afenjar, Alexandra
- Armour, Christine M.
- Arveiler, Benoit
- Beets, Lex
- Burglen, Lydie
- Busa, Tiffany
- Collet, Marie
- Deforges, Julie
- de Vries, Bert B. A.
- Dominguez Garrido, Elena
- Dorison, Nathalie
- Dupont, Juliette
- Francannet, Christine
- Garciá-Minaúr, Sixto
- Gabau Vila, Elisabeth
- Gebre-Medhin, Samuel
- Gener Querol, Blanca
- Geneviève, David
- Gérard, Marion
- Gervasini, Cristina Giovanna
- Goldenberg, Alice
- Josifova, Dragana
- Lachlan, Katherine
- Maas, Saskia
- Maranda, Bruno
- Moilanen, Jukka S.
- Nordgren, Ann
- Parent, Philippe
- Rankin, Julia
- Reardon, Willie
- Rio, Marlène
- Roume, Joëlle
- Shaw, Adam
- Smigiel, Robert
- Sojo, Amaia
- Solomon, Benjamin
- Stembalska, Agnieszka
- Stumpel, Constance
- Suarez, Francisco
- Terhal, Paulien
- Thomas, Simon
- Touraine, Renaud
- Verloes, Alain
- Vincent-Delorme, Catherine
- Wincent, Josephine
- Peters, Dorien J. M.
- Bartsch, Oliver
- Larizza, Lidia
- Lacombe, Didier
- Hennekam, Raoul C.
2016
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Clinical genetics, 2014-04, Vol.85 (4), p.328-335
2014
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European journal of medical genetics, 2011-11, Vol.54 (6), p.e542-e547
2011
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American journal of human genetics, 2023-06, Vol.110 (6), p.963-978
- Rots, Dmitrijs
- Jakub, Taryn E.
- Keung, Crystal
- Jackson, Adam
- Banka, Siddharth
- Pfundt, Rolph
- de Vries, Bert B.A.
- van Jaarsveld, Richard H.
- Hopman, Saskia M.J.
- Valenzuela, Irene
- Hempel, Maja
- Bierhals, Tatjana
- Kortüm, Fanny
- Lecoquierre, Francois
- Goldenberg, Alice
- Hertz, Jens Michael
- Kibæk, Maria
- Prijoles, Eloise J.
- Stevenson, Roger E.
- Everman, David B.
- Patterson, Wesley G.
- Meng, Linyan
- Gijavanekar, Charul
- De Dios, Karl
- Lakhani, Shenela
- Levy, Tess
- Wieczorek, Dagmar
- Benke, Paul J.
- Lopez Garcia, María Soledad
- Perrier, Renee
- Sousa, Sergio B.
- Almeida, Pedro M.
- Isidor, Bertrand
- Deb, Wallid
- Schmanski, Andrew A.
- Abdul-Rahman, Omar
- Philippe, Christophe
- Bruel, Ange-Line
- Faivre, Laurence
- Thauvin, Christel
- Smits, Jeroen J.
- Garavelli, Livia
- Caraffi, Stefano G.
- Peluso, Francesca
- Royer, Erin
- Leeuwen, Lisette
- Stegmann, Alexander P.A.
- Stumpel, Constance T.R.M.
- Tiller, George E.
- Bosch, Daniëlle G.M.
- Potgieter, Stephanus T.
- Joss, Shelagh
- Splitt, Miranda
- Holden, Simon
- Prapa, Matina
- Foulds, Nicola
- Waltes, Regina
- Chiocchetti, Andreas G.
- Freitag, Christine M.
- De Rubeis, Silvia
- Buxbaum, Joseph
- Gelb, Bruce D.
- Branko, Aleksic
- Kushima, Itaru
- Howe, Jennifer
- Scherer, Stephen W.
- Arado, Alessia
- Baldo, Chiara
- Patat, Olivier
- Bénédicte, Demeer
- Lopergolo, Diego
- Santorelli, Filippo M.
- Dufke, Andreas
- Falb, Ruth J.
- Rieß, Angelika
- Krieg, Peter
- Spranger, Stephanie
- Iascone, Maria
- Josephi-Taylor, Sarah
- Roscioli, Tony
- Buckley, Michael F.
- Liebelt, Jan
- Dagli, Aditi I.
- Aten, Emmelien
- Hurst, Anna C.E.
- Suri, Mohnish
- Aliu, Ermal
- Naik, Sunil
- Coursimault, Juliette
- Nicolas, Gaël
- Küpper, Hanna
- Ibrahim, Veyan
- Top, Deniz
- Di Cara, Francesca
- Louie, Raymond J.
- Stolerman, Elliot
- Brunner, Han G.
- Vissers, Lisenka E.L.M.
- Kramer, Jamie M.
- Kleefstra, Tjitske
2023
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American journal of human genetics, 2016-10, Vol.99 (4), p.991-999
- Pena, Loren D.M.
- Hempel, Maja
- McLaughlin, Heather M.
- Cho, Megan
- Stong, Nicholas
- Shuss, Christine M.
- Burrage, Lindsay C.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Graham, Brett H.
- Lalani, Seema R.
- Lewis, Richard A.
- Posey, Jennifer E.
- Hanchard, Neil A.
- Mercedes, Alejandro E.
- Wangler, Michael F.
- Muzny, Donna M.
- Ward, Patricia A.
- Ramoni, Rachel B.
- McCray, Alexa T.
- Mazur, Paul
- Splinter, Kimberly
- Esteves, Cecilia
- Jiang, Yong-hui
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Spillmann, Rebecca C.
- Goldstein, David B.
- Loscalzo, Joseph
- Rodan, Lance H.
- Walsh, Chris A.
- Cooper, Cynthia M.
- Donnell-Fink, Laurel A.
- Krieg, Elizabeth L.
- Lincoln, Sharyn A.
- Worthey, Elizabeth A.
- Lazar, Joe
- Handley, Lori H.
- Newberry, J. Scott
- Schroeder, Molly C.
- Brown, Donna M.
- Levy, Shawn E.
- Dorset, Dan C.
- Jones, Angela L.
- Manolio, Teri A.
- Wise, Anastasia L.
- Eckstein, David J.
- Krasnewich, Donna M.
- Loomis, Carson R.
- Iglesias, Brenda
- Martin, Casey
- Koeller, David M.
- Ashley, Euan A.
- Zornio, Patricia A.
- Nelson, Stan F.
- Palmer, Christina G.S.
- Allard, Patrick
- Dell Angelica, Esteban C.
- Lee, Hane
- Papp, Jeanette C.
- Dorrani, Naghmeh
- Draper, David D.
- Estwick, Tyra
- Gahl, William A.
- Gartner, Valerie
- Godfrey, Rena A.
- Goheen, Mitchell
- Johnston, Jean M.
- Latham, Lea
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Malicdan, May V.
- McCarty, Alexandra J.
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- Pusey, Barbara N.
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- Schaffer, Katherine E.
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2016
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Nature genetics, 2000-06, Vol.25 (2), p.160-165
- Stratton, Michael R
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2000
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American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2733-2742
- de Munnik, Sonja A.
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- Clayton‐Smith, Jill
- Deal, Cheri L.
- Edrees, Alaa Y.
- Feingold, Murray
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- van Hagen, Johanna M.
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- Ramadevi, A. Radha
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2012
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European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.999-1005
- Paulussen, Aimée D C
- Schrander-Stumpel, Constance T
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2010
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European journal of pediatrics, 1993-08, Vol.152 (8), p.640-644
1993
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Nature genetics, 2018, Vol.50 (2), p.175-+
- Saeed, S.
- Bonnefond, A.
- Tamanini, F.
- Mirza, M. U.
- Manzoor, J.
- Janjua, Q. M.
- Din, S. M.
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- Vaillant, E.
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- de Graeve, F.
- Rabearivelo, I.
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- Boutry, R.
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- Ayesha, H.
- Ali, M.
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2018
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European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.327-332
2014
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