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The New England journal of medicine, 2015-05, Vol.372 (20), p.1887-1897
- Bainbridge, James W.B
- Mehat, Manjit S
- Sundaram, Venki
- Robbie, Scott J
- Barker, Susie E
- Ripamonti, Caterina
- Georgiadis, Anastasios
- Mowat, Freya M
- Beattie, Stuart G
- Gardner, Peter J
- Feathers, Kecia L
- Luong, Vy A
- Yzer, Suzanne
- Balaggan, Kamaljit
- Viswanathan, Ananth
- de Ravel, Thomy J.L
- Casteels, Ingele
- Holder, Graham E
- Tyler, Nick
- Fitzke, Fred W
- Weleber, Richard G
- Nardini, Marko
- Moore, Anthony T
- Thompson, Debra A
- Petersen-Jones, Simon M
- Michaelides, Michel
- van den Born, L. Ingeborgh
- Stockman, Andrew
- Smith, Alexander J
- Rubin, Gary
- Ali, Robin R
2015
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American journal of human genetics, 2007-01, Vol.80 (1), p.1-11
- Stoetzel, Corinne
- Muller, Jean
- Laurier, Virginie
- Davis, Erica E.
- Zaghloul, Norann A.
- Vicaire, Serge
- Jacquelin, Cécile
- Plewniak, Frédéric
- Leitch, Carmen C.
- Sarda, Pierre
- Hamel, Christian
- de Ravel, Thomy J.L.
- Lewis, Richard Alan
- Friederich, Evelyne
- Thibault, Christelle
- Danse, Jean-Marc
- Verloes, Alain
- Bonneau, Dominique
- Katsanis, Nicholas
- Poch, Olivier
- Mandel, Jean-Louis
- Dollfus, Hélène
2007
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Nature genetics, 2006-05, Vol.38 (5), p.521-524
- Alan Lewis, Richard
- Rossillion, Béatrice
- Holder, Susan
- Elcioglu, Nursel H
- Davis, Erica E
- Vicaire, Serge
- Muller, Jean
- Hamel, Christian
- Leheup, Bruno
- Beales, Philip L
- Odent, Sylvie
- Lacombe, Didier
- Amati-Bonneau, Patrizia
- Stoetzel, Corinne
- Mandel, Jean-Louis
- Holder, Muriel
- Laurier, Virginie
- Sarda, Pierre
- Corbani, Sandra
- Leitch, Carmen C
- Salem, Nabiha
- Badano, José L
- Sigaudy, Sabine
- Bonneau, Dominique
- Verloes, Alain
- Jalk, Nadine
- Silva, Eduardo D
- Rix, Suzanne
- Chouery, Eliane
- Katsanis, Nicholas
- Brooks, Alice S
- de Ravel, Thomy J L
- Poch, Olivier
- Dollfus, Hélène
- Mégarbané, André
2006
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European journal of medical genetics, 2009-03, Vol.52 (2), p.145-147
2009
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Human genetics, 2011-02, Vol.129 (2), p.199-208
2011
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HGG advances, 2024-04, Vol.5 (2), p.100273, Article 100273
- Ansari, Morad
- Faour, Kamli N.W.
- Shimamura, Akiko
- Grimes, Graeme
- Kao, Emeline M.
- Denhoff, Erica R.
- Blatnik, Ana
- Ben-Isvy, Daniel
- Wang, Lily
- Helm, Benjamin M.
- Firth, Helen
- Breman, Amy M.
- Bijlsma, Emilia K.
- Iwata-Otsubo, Aiko
- de Ravel, Thomy J.L.
- Fusaro, Vincent
- Fryer, Alan
- Nykamp, Keith
- Stühn, Lara G.
- Haack, Tobias B.
- Korenke, G. Christoph
- Constantinou, Panayiotis
- Bujakowska, Kinga M.
- Low, Karen J.
- Place, Emily
- Humberson, Jennifer
- Napier, Melanie P.
- Hoffman, Jessica
- Juusola, Jane
- Deardorff, Matthew A.
- Shao, Wanqing
- Rockowitz, Shira
- Krantz, Ian
- Kaur, Maninder
- Raible, Sarah
- Dortenzio, Victoria
- Kliesch, Sabine
- Singer-Berk, Moriel
- Groopman, Emily
- DiTroia, Stephanie
- Ballal, Sonia
- Srivastava, Siddharth
- Rothfelder, Kathrin
- Biskup, Saskia
- Rzasa, Jessica
- Kerkhof, Jennifer
- McConkey, Haley
- Sadikovic, Bekim
- Hilton, Sarah
- Banka, Siddharth
- Tüttelmann, Frank
- Conrad, Donald F.
- O’Donnell-Luria, Anne
- Talkowski, Michael E.
- FitzPatrick, David R.
- Boone, Philip M.
2024
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Genetics in medicine, 2019-08, Vol.21 (8), p.1761-1771
- Bauwens, Miriam
- Garanto, Alejandro
- Sangermano, Riccardo
- Naessens, Sarah
- Weisschuh, Nicole
- De Zaeytijd, Julie
- Khan, Mubeen
- Sadler, Françoise
- Balikova, Irina
- Van Cauwenbergh, Caroline
- Rosseel, Toon
- Bauwens, Jim
- De Leeneer, Kim
- De Jaegere, Sarah
- Van Laethem, Thalia
- De Vries, Meindert
- Carss, Keren
- Arno, Gavin
- Fakin, Ana
- Webster, Andrew R
- de Ravel de l'Argentière, Thomy J L
- Sznajer, Yves
- Vuylsteke, Marnik
- Kohl, Susanne
- Wissinger, Bernd
- Cherry, Timothy
- Collin, Rob W J
- Cremers, Frans P M
- Leroy, Bart P
- De Baere, Elfride
2019
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Human mutation, 2022-07, Vol.43 (7), p.832-858
- Solaki, Maria
- Baumann, Britta
- Reuter, Peggy
- Andreasson, Sten
- Audo, Isabelle
- Ayuso, Carmen
- Balousha, Ghassan
- Benedicenti, Francesco
- Birch, David
- Bitoun, Pierre
- Blain, Delphine
- Bocquet, Beatrice
- Branham, Kari
- Català‐Mora, Jaume
- De Baere, Elfride
- Dollfus, Helene
- Falana, Mohammed
- Giorda, Roberto
- Golovleva, Irina
- Gottlob, Irene
- Heckenlively, John R.
- Jacobson, Samuel G.
- Jones, Kaylie
- Jägle, Herbert
- Janecke, Andreas R.
- Kellner, Ulrich
- Liskova, Petra
- Lorenz, Birgit
- Martorell‐Sampol, Loreto
- Messias, André
- Meunier, Isabelle
- Belga Ottoni Porto, Fernanda
- Papageorgiou, Eleni
- Plomp, Astrid S.
- Ravel, Thomy J. L.
- Reiff, Charlotte M.
- Renner, Agnes B.
- Rosenberg, Thomas
- Rudolph, Günther
- Salati, Roberto
- Sener, E. Cumhur
- Sieving, Paul A.
- Stanzial, Franco
- Traboulsi, Elias I.
- Tsang, Stephen H.
- Varsanyi, Balázs
- Weleber, Richard G.
- Zobor, Ditta
- Stingl, Katarina
- Wissinger, Bernd
- Kohl, Susanne
2022
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Heart rhythm, 2004-11, Vol.1 (5), p.610-615
2004
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Journal of medical genetics, 2017-09, Vol.54 (9), p.613
- Meerschaut, Ilse
- Rochefort, Daniel
- Revençu, Nicole
- Pètre, Justine
- Corsello, Christina
- Rouleau, Guy A
- Hamdan, Fadi F
- Michaud, Jacques L
- Morton, Jenny
- Radley, Jessica
- Ragge, Nicola
- García-Miñaúr, Sixto
- Lapunzina, Pablo
- Bralo, Maria Palomares
- Mori, Maria Ángeles
- Moortgat, Stéphanie
- Benoit, Valérie
- Mary, Sandrine
- Bockaert, Nele
- Oostra, Ann
- Vanakker, Olivier
- Velinov, Milen
- de Ravel, Thomy Jl
- Mekahli, Djalila
- Sebat, Jonathan
- Vaux, Keith K
- DiDonato, Nataliya
- Hanson-Kahn, Andrea K
- Hudgins, Louanne
- Dallapiccola, Bruno
- Novelli, Antonio
- Tarani, Luigi
- Andrieux, Joris
- Parker, Michael J
- Neas, Katherine
- Ceulemans, Berten
- Schoonjans, An-Sofie
- Prchalova, Darina
- Havlovicova, Marketa
- Hancarova, Miroslava
- Budisteanu, Magdalena
- Dheedene, Annelies
- Menten, Björn
- Dion, Patrick A
- Lederer, Damien
- Callewaert, Bert
2017
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European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.102-107
- BRUNETTI-PIERRI, Nicola
- PACIORKOWSKI, Alex R
- RUIVENKAMP, Claudia
- BERTRAND, Mary
- DE RAVEL, Thomy Jl
- JAYAKAR, Parul
- BELLI, Serena
- ROCCHETTI, Katia
- PANTALEONI, Chiara
- D'ARRIGO, Stefano
- HUGHES, Jeff
- SAU WAI CHEUNG
- CICCONE, Roberto
- ZUFFARDI, Orsetta
- STANKIEWICZ, Pawel
- MINA, Erika Della
- BONAGLIA, Maria Clara
- BORGATTI, Renato
- SCHAAF, Christian P
- SUTTON, V. Reid
- ZHILIAN XIA
- JELLUMA, Naftha
2011
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Investigative ophthalmology & visual science, 2014-09, Vol.55 (10), p.6817-6828
2014
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Journal of vision (Charlottesville, Va.), 2015-01, Vol.15 (15), p.20-20
2015
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European journal of pediatrics, 2007-07, Vol.166 (7), p.637-643
2007
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Prenatal diagnosis, 2004-12, Vol.24 (12), p.984-988
2004
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European journal of medical genetics, 2005-04, Vol.48 (2), p.189-193
2005
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The journal of clinical endocrinology and metabolism, 1995-12, Vol.80 (12), p.3591-3595
1995
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Annales de génétique, 2001-04, Vol.44 (2), p.63-66
2001
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Prenatal diagnosis, 1999-06, Vol.19 (6), p.580-582
1999
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Genetic counseling, 2004, Vol.15 (2), p.237
2004
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Clinical dysmorphology, 2000-07, Vol.9 (3), p.163-165
2000
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American journal of medical genetics, 1996-12, Vol.66 (1), p.52-54
1996
Link zum Volltext
Annales de génétique, 2004-12
2004
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American journal of medical genetics, 2000-12, Vol.95 (5), p.411-414
2000
Link zum Volltext
The New England journal of medicine, 2008-10, Vol.359 (16), p.1685-1699
- Mefford, Heather C
- Sharp, Andrew J
- Baker, Carl
- Itsara, Andy
- Jiang, Zhaoshi
- Buysse, Karen
- Huang, Shuwen
- Maloney, Viv K
- Crolla, John A
- Baralle, Diana
- Collins, Amanda
- Mercer, Catherine
- Norga, Koen
- de Ravel, Thomy
- Devriendt, Koen
- Bongers, Ernie M.H.F
- de Leeuw, Nicole
- Reardon, William
- Gimelli, Giorgio
- Gimelli, Stefania
- Bena, Frederique
- Hennekam, Raoul C
- Male, Alison
- Gaunt, Lorraine
- Clayton-Smith, Jill
- Simonic, Ingrid
- Park, Soo Mi
- Mehta, Sarju G
- Nik-Zainal, Serena
- Woods, C. Geoffrey
- Firth, Helen V
- Parkin, Georgina
- Fichera, Marco
- Reitano, Santina
- Giudice, Mariangela Lo
- Li, Kelly E
- Casuga, Iris
- Broomer, Adam
- Conrad, Bernard
- Schwerzmann, Markus
- Räber, Lorenz
- Gallati, Sabina
- Striano, Pasquale
- Coppola, Antonietta
- Tolmie, John L
- Tobias, Edward S
- Lilley, Chris
- Armengol, Lluis
- Spysschaert, Yves
- Verloo, Patrick
- De Coene, Anja
- Goossens, Linde
- Mortier, Geert
- Speleman, Frank
- van Binsbergen, Ellen
- Nelen, Marcel R
- Hochstenbach, Ron
- Poot, Martin
- Gallagher, Louise
- Gill, Michael
- McClellan, Jon
- King, Mary-Claire
- Regan, Regina
- Skinner, Cindy
- Stevenson, Roger E
- Antonarakis, Stylianos E
- Chen, Caifu
- Estivill, Xavier
- Menten, Björn
- Gribble, Susan
- Schwartz, Charles E
- Schwartz, Stuart
- Sutcliffe, James S
- Walsh, Tom
- Knight, Samantha J.L
- Sebat, Jonathan
- Romano, Corrado
- Veltman, Joris A
- de Vries, Bert B.A
- Vermeesch, Joris R
- Barber, John C.K
- Willatt, Lionel
- Tassabehji, May
- Eichler, Evan E
2008
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