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Nature reviews. Disease primers, 2017-01, Vol.3, p.16094
2017
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Nature genetics, 2011-03, Vol.43 (3), p.197
- Rooryck, Caroline
- Diaz-Font, Anna
- Osborn, Daniel P S
- Chabchoub, Elyes
- Hernandez-Hernandez, Victor
- Shamseldin, Hanan
- Kenny, Joanna
- Waters, Aoife
- Jenkins, Dagan
- Kaissi, Ali Al
- Leal, Gabriela F
- Dallapiccola, Bruno
- Carnevale, Franco
- Bitner-Glindzicz, Maria
- Lees, Melissa
- Hennekam, Raoul
- Stanier, Philip
- Burns, Alan J
- Peeters, Hilde
- Alkuraya, Fowzan S
- Beales, Philip L
2011
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Scientific reports, 2020-08, Vol.10 (1), p.13763-13763, Article 13763
- Bryant, Dale
- Seda, Marian
- Peskett, Emma
- Maurer, Constance
- Pomeranz, Gideon
- Ghosh, Marcus
- Hawkins, Thomas A
- Cleak, James
- Datta, Sanchari
- Hariri, Hanaa
- Eckert, Kaitlyn M
- Jafree, Daniyal J
- Walsh, Claire
- Demetriou, Charalambos
- Ishida, Miho
- Alemán-Charlet, Cristina
- Vestito, Letizia
- Seselgyte, Rimante
- McDonald, Jeffrey G
- Bitner-Glindzicz, Maria
- Hemberger, Myriam
- Rihel, Jason
- Teboul, Lydia
- Henne, W Mike
- Jenkins, Dagan
- Moore, Gudrun E
- Stanier, Philip
2020
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Nature genetics, 1997-02, Vol.15 (2), p.157-164
- Cruaud, Corinne
- Leibovici, Michel
- Compain, Sylvie
- Lacombe, Didier
- Bitner-Glindzicz, Maria
- Vigneron, Jacqueline
- Boven, Katia
- Petit, Christine
- Charachon, Robert
- Francis, Mary
- Weil, Dominique
- Regemorter, Nicole Van
- Samson, Delphine
- Weissenbach, Jean
- Bedbeder, Philippe
- Heilig, Roland
- Sahly, Iman
- Abdelhak, Sonia
- Kalatzis, Vasiliki
- Vincent, Christophe
1997
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Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079
- Snijders Blok, Lot
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H
- Nowak, Catherine B
- Douglas, Jessica
- Swoboda, Kathryn J
- Steeves, Marcie A
- Sahai, Inderneel
- Stumpel, Connie T R M
- Stegmann, Alexander P A
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T
- Cohen, Ana S A
- Agbahovbe, Ruky
- Innes, A Micheil
- Au, P Y Billie
- Rankin, Julia
- Anderson, Ilse J
- Skinner, Steven A
- Louie, Raymond J
- Warren, Hannah E
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H
- Price, Susan
- Schnur, Rhonda E
- Douglas, Ganka
- Wentzensen, Ingrid M
- Zweier, Christiane
- Reis, André
- Bialer, Martin G
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H
- Monroe, Glen R
- van Gassen, Koen L I
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A
- Wortmann, Saskia B
- Jakielski, Kathy J
- Strand, Edythe A
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D
- Petrovich, Robert M
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G
- Wade, Paul A
- Fisher, Simon E
- Campeau, Philippe M
2019
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Nature communications, 2019-02, Vol.10 (1), p.883-4, Article 883
- Blok, Lot Snijders
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H
- Nowak, Catherine B
- Douglas, Jessica
- Swoboda, Kathryn J
- Steeves, Marcie A
- Sahai, Inderneel
- Stumpel, Connie T R M
- Stegmann, Alexander P A
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T
- Cohen, Ana S A
- Agbahovbe, Ruky
- Innes, A Micheil
- Au, P Y Billie
- Rankin, Julia
- Anderson, Ilse J
- Skinner, Steven A
- Louie, Raymond J
- Warren, Hannah E
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H
- Price, Susan
- Schnur, Rhonda E
- Douglas, Ganka
- Wentzensen, Ingrid M
- Zweier, Christiane
- Reis, André
- Bialer, Martin G
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H
- Monroe, Glen R
- van Gassen, Koen L I
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A
- Wortmann, Saskia B
- Jakielski, Kathy J
- Strand, Edythe A
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D
- Petrovich, Robert M
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G
- Wade, Paul A
- Fisher, Simon E
- Campeau, Philippe M
2019
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Scientific reports, 2018-09, Vol.8 (1), p.13376-4, Article 13376
2018
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Nature genetics, 2000-09, Vol.26 (1), p.56-60
- Bitner-Glindzicz, Maria
- Glaser, Benjamin
- Lindley, Keith J
- Rutland, Paul
- Blaydon, Diana
- Smith, Virpi V
- Milla, Peter J
- Hussain, Khalid
- Furth-Lavi, Judith
- Cosgrove, Karen E
- Shepherd, Ruth M
- Barnes, Philippa D
- O'Brien, Rachel E
- Farndon, Peter A
- Sowden, Jane
- Liu, Xue-Zhong
- Scanlan, Matthew J
- Malcolm, Sue
- Dunne, Mark J
- Aynsley-Green, Albert
2000
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European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327
2015
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European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1-4
2016
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European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1325-1329
2013
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