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Analytical and bioanalytical chemistry, 2013-06, Vol.405 (15), p.5291-5300
2013
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Nature genetics, 2011-04, Vol.43 (4), p.356-359
- BICKNELL, Louise S
- BONGERS, Ernie M.h F
- VAN BOKHOVEN, Hans
- DEAN, John
- EDREES, Alaa Y
- FEINGOLD, Murray
- FRYER, Alan
- HOEFSLOOT, Lies H
- KAU, Nikolaus
- KNOERS, Nine V.a M
- MACKENZIE, James
- OPITZ, John M
- LEITCH, Andrea
- SARDA, Pierre
- ROSS, Alison
- KAREN TEMPLE, I
- TOUTAIN, Annick
- WISE, Carol A
- WRIGHT, Michael
- JACKSON, Andrew P
- BROWN, Stephen
- SCHOOTS, Jeroen
- HARLEY, Margaret E
- AFTIMOS, Salim
- AL-AAMA, Jumana Y
- BOBER, Michael
- BROWN, Paul A. J
2011
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American journal of human genetics, 2007-12, Vol.81 (6), p.1169-1185
2007
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Clinical journal of the American Society of Nephrology, 2011-01, Vol.6 (1), p.22-29
2011
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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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American journal of human genetics, 2013-10, Vol.93 (4), p.727-734
- Koehler, Katrin
- Malik, Meera
- Mahmood, Saqib
- Gießelmann, Sebastian
- Beetz, Christian
- Hennings, J. Christopher
- Huebner, Antje K.
- Grahn, Ammi
- Reunert, Janine
- Nürnberg, Gudrun
- Thiele, Holger
- Altmüller, Janine
- Nürnberg, Peter
- Mumtaz, Rizwan
- Babovic-Vuksanovic, Dusica
- Basel-Vanagaite, Lina
- Borck, Guntram
- Brämswig, Jürgen
- Mühlenberg, Reinhard
- Sarda, Pierre
- Sikiric, Alma
- Anyane-Yeboa, Kwame
- Zeharia, Avraham
- Ahmad, Arsalan
- Coubes, Christine
- Wada, Yoshinao
- Marquardt, Thorsten
- Vanderschaeghe, Dieter
- Van Schaftingen, Emile
- Kurth, Ingo
- Huebner, Angela
- Hübner, Christian A.
2013
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PloS one, 2012-03, Vol.7 (3), p.e30778
2012
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European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.471-479
- Doco-Fenzy, Martine
- Leroy, Camille
- Schneider, Anouck
- Petit, Florence
- Delrue, Marie-Ange
- Andrieux, Joris
- Perrin-Sabourin, Laurence
- Landais, Emilie
- Aboura, Azzedine
- Puechberty, Jacques
- Girard, Manon
- Tournaire, Magali
- Sanchez, Elodie
- Rooryck, Caroline
- Ameil, Agnès
- Goossens, Michel
- Jonveaux, Philippe
- Lefort, Geneviève
- Taine, Laurence
- Cailley, Dorothée
- Gaillard, Dominique
- Leheup, Bruno
- Sarda, Pierre
- Geneviève, David
2014
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European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.289-292
- Tran Mau-Them, Frederic
- Willems, Marjolaine
- Albrecht, Beate
- Sanchez, Elodie
- Puechberty, Jacques
- Endele, Sabine
- Schneider, Anouck
- Ruiz Pallares, Nathalie
- Missirian, Chantal
- Rivier, Francois
- Girard, Manon
- Holder, Muriel
- Manouvrier, Sylvie
- Touitou, Isabelle
- Lefort, Genevieve
- Sarda, Pierre
- Moncla, Anne
- Drunat, Severine
- Wieczorek, Dagmar
- Genevieve, David
2014
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European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1044-1050
2012
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PloS one, 2011-04, Vol.6 (4), p.e19464-e19464
2011
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Fertility and sterility, 2011-06, Vol.95 (7), p.2433.e17-2433.e22
2011
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Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1579-1594
- Coutelier, Marie
- Coarelli, Giulia
- Monin, Marie-Lorraine
- Konop, Juliette
- Davoine, Claire-Sophie
- Tesson, Christelle
- Valter, Rémi
- Anheim, Mathieu
- Behin, Anthony
- Castelnovo, Giovanni
- Charles, Perrine
- David, Albert
- Ewenczyk, Claire
- Fradin, Mélanie
- Goizet, Cyril
- Hannequin, Didier
- Labauge, Pierre
- Riant, Florence
- Sarda, Pierre
- Sznajer, Yves
- Tison, François
- Ullmann, Urielle
- Van Maldergem, Lionel
- Mochel, Fanny
- Brice, Alexis
- Stevanin, Giovanni
- Durr, Alexandra
2017
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La Presse médicale (1983), 2012-05, Vol.41, p.S12-S14
2012
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La Presse médicale (1983), 2012-05, Vol.41 Suppl 1, p.S12-S14
2012
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Journal of lipid research, 1998-09, Vol.39 (9), p.1825-1832
1998
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Journal of medical genetics, 2014-11, Vol.51 (11), p.724-736
- Redin, Claire
- Gérard, Bénédicte
- Lauer, Julia
- Herenger, Yvan
- Muller, Jean
- Quartier, Angélique
- Masurel-Paulet, Alice
- Willems, Marjolaine
- Lesca, Gaétan
- El-Chehadeh, Salima
- Le Gras, Stéphanie
- Vicaire, Serge
- Philipps, Muriel
- Dumas, Michaël
- Geoffroy, Véronique
- Feger, Claire
- Haumesser, Nicolas
- Alembik, Yves
- Barth, Magalie
- Bonneau, Dominique
- Colin, Estelle
- Dollfus, Hélène
- Doray, Bérénice
- Delrue, Marie-Ange
- Drouin-Garraud, Valérie
- Flori, Elisabeth
- Fradin, Mélanie
- Francannet, Christine
- Goldenberg, Alice
- Lumbroso, Serge
- Mathieu-Dramard, Michèle
- Martin-Coignard, Dominique
- Lacombe, Didier
- Morin, Gilles
- Polge, Anne
- Sukno, Sylvie
- Thauvin-Robinet, Christel
- Thevenon, Julien
- Doco-Fenzy, Martine
- Genevieve, David
- Sarda, Pierre
- Edery, Patrick
- Isidor, Bertrand
- Jost, Bernard
- Olivier-Faivre, Laurence
- Mandel, Jean-Louis
- Piton, Amélie
2014
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Soins. Pédiatrie, puériculture, 2013-09 (274), p.20
2013
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Soins. Pédiatrie, puériculture, 2013-09 (274), p.24
2013
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Journal of medical genetics, 2019-10, Vol.56 (10), p.701
- Jønch, Aia Elise
- Douard, Elise
- Moreau, Clara
- Van Dijck, Anke
- Passeggeri, Marzia
- Kooy, Frank
- Puechberty, Jacques
- Campbell, Carolyn
- Sanlaville, Damien
- Lefroy, Henrietta
- Richetin, Sonia
- Pain, Aurelie
- Geneviève, David
- Kini, Usha
- Le Caignec, Cédric
- Lespinasse, James
- Skytte, Anne-Bine
- Isidor, Bertrand
- Zweier, Christiane
- Caberg, Jean-Hubert
- Delrue, Marie-Ange
- Møller, Rikke Steensbjerre
- Bojesen, Anders
- Hjalgrim, Helle
- Brasch-Andersen, Charlotte
- Lemyre, Emmanuelle
- Ousager, Lilian Bomme
- Jacquemont, Sébastien
2019
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American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.417-430
- Legendre, Marine
- Abadie, Véronique
- Attié‐Bitach, Tania
- Philip, Nicole
- Busa, Tiffany
- Bonneau, Dominique
- Colin, Estelle
- Dollfus, Hélène
- Lacombe, Didier
- Toutain, Annick
- Blesson, Sophie
- Julia, Sophie
- Martin‐Coignard, Dominique
- Geneviève, David
- Leheup, Bruno
- Odent, Sylvie
- Jouk, Pierre‐Simon
- Mercier, Sandra
- Faivre, Laurence
- Vincent‐Delorme, Catherine
- Francannet, Christine
- Naudion, Sophie
- Mathieu‐Dramard, Michèle
- Delrue, Marie‐Ange
- Goldenberg, Alice
- Héron, Delphine
- Parent, Philippe
- Touraine, Renaud
- Layet, Valérie
- Sanlaville, Damien
- Quélin, Chloé
- Moutton, Sébastien
- Fradin, Mélanie
- Jacquette, Aurélia
- Sigaudy, Sabine
- Pinson, Lucile
- Sarda, Pierre
- Guerrot, Anne‐Marie
- Rossi, Massimiliano
- Masurel‐Paulet, Alice
- El Chehadeh, Salima
- Piguel, Xavier
- Rodriguez‐Ballesteros, Montserrat
- Ragot, Stéphanie
- Lyonnet, Stanislas
- Bilan, Frédéric
- Gilbert‐Dussardier, Brigitte
2017
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Genetics in medicine, 2019-03, Vol.21 (3), p.553-563
- Valence, Stéphanie
- Cochet, Emmanuelle
- Rougeot, Christelle
- Garel, Catherine
- Chantot-Bastaraud, Sandra
- Lainey, Elodie
- Afenjar, Alexandra
- Barthez, Marie-Anne
- Bednarek, Nathalie
- Doummar, Diane
- Faivre, Laurence
- Goizet, Cyril
- Haye, Damien
- Heron, Bénédicte
- Kemlin, Isabelle
- Lacombe, Didier
- Milh, Mathieu
- Moutard, Marie-Laure
- Riant, Florence
- Robin, Stéphanie
- Roubertie, Agathe
- Sarda, Pierre
- Toutain, Annick
- Villard, Laurent
- Ville, Dorothée
- Billette de Villemeur, Thierry
- Rodriguez, Diana
- Burglen, Lydie
2019
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American journal of human genetics, 2013-09, Vol.93 (3), p.579-586
2013
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JAMA neurology, 2023-09, Vol.80 (9), p.980
- Akula, Shyam K
- Chen, Allen Y
- Neil, Jennifer E
- Shao, Diane D
- Mo, Alisa
- Hylton, Norma K
- DiTroia, Stephanie
- Ganesh, Vijay S
- Smith, Richard S
- O'Kane, Katherine
- Yeh, Rebecca C
- Marciano, Jack H
- Kirkham, Samantha
- Kenny, Connor J
- Song, Janet H T
- Al Saffar, Muna
- Millan, Francisca
- Harris, David J
- Murphy, Andrea V
- Klemp, Kara C
- Braddock, Stephen R
- Brand, Harrison
- Wong, Isaac
- Talkowski, Michael E
- O'Donnell-Luria, Anne
- Lai, Abbe
- Hill, Robert Sean
- Mochida, Ganeshwaran H
- Doan, Ryan N
- Barkovich, A James
- Yang, Edward
- Amrom, Dina
- Andermann, Eva
- Poduri, Annapurna
- Walsh, Christopher A
2023
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Human mutation, 2016-12, Vol.37 (12), p.1329-1339
- Dubourg, Christèle
- Carré, Wilfrid
- Hamdi-Rozé, Houda
- Mouden, Charlotte
- Roume, Joëlle
- Abdelmajid, Benmansour
- Amram, Daniel
- Baumann, Clarisse
- Chassaing, Nicolas
- Coubes, Christine
- Faivre-Olivier, Laurence
- Ginglinger, Emmanuelle
- Gonzales, Marie
- Levy-Mozziconacci, Annie
- Lynch, Sally-Ann
- Naudion, Sophie
- Pasquier, Laurent
- Poidvin, Amélie
- Prieur, Fabienne
- Sarda, Pierre
- Toutain, Annick
- Dupé, Valérie
- Akloul, Linda
- Odent, Sylvie
- de Tayrac, Marie
- David, Véronique
2016
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