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American journal of medical genetics. Part C, Seminars in medical genetics, 2013-05, Vol.163C (2), p.122-130
2013
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Trends in genetics, 2022-04, Vol.38 (4), p.321-324
2022
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Pediatric dermatology, 2022-03, Vol.39 (2), p.281-287
2022
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Movement disorders, 2024-02, Vol.39 (2), p.400-410
- Collins Hutchinson, Meagan L.
- St‐Onge, Judith
- Schlienger, Sabrina
- Boudrahem‐Addour, Nassima
- Mougharbel, Lina
- Michaud, Jean‐Francois
- Lloyd, Clara
- Bruneau, Elena
- Roux, Cedric
- Sahly, Ahmed N.
- Osterman, Bradley
- Myers, Kenneth A.
- Rouleau, Guy A.
- Jimenez Cruz, Daniel Alexander
- Rivière, Jean‐Baptiste
- Accogli, Andrea
- Charron, Frederic
- Srour, Myriam
2024
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European journal of preventive cardiology, 2019-08, Vol.26 (12), p.1262-1270
2019
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Journal of genetic counseling, 2020-12, Vol.29 (6), p.1173-1185
2020
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Human mutation, 2021-12, Vol.42 (12), p.1576-1583
- Ravel, Jean‐Marie
- Dreumont, Natacha
- Mosca, Pauline
- Smith, Desiree E. C.
- Mendes, Marisa I.
- Wiedemann, Arnaud
- Coelho, David
- Schmitt, Emmanuelle
- Rivière, Jean‐Baptiste
- Tran Mau‐Them, Frédéric
- Thevenon, Julien
- Kuentz, Paul
- Polivka, Marc
- Fuchs, Sabine A.
- Kok, Gautam
- Thauvin‐Robinet, Christel
- Guéant, Jean‐Louis
- Salomons, Gajja S.
- Faivre, Laurence
- Feillet, François
2021
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Pediatric dermatology, 2019-11, Vol.36 (6), p.869-875
2019
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Canadian journal of cardiology, 2018-12, Vol.34 (12), p.1553-1563
- Brunham, Liam R.
- Ruel, Isabelle
- Aljenedil, Sumayah
- Rivière, Jean-Baptiste
- Baass, Alexis
- Tu, Jack V.
- Mancini, G.B. John
- Raggi, Paolo
- Gupta, Milan
- Couture, Patrick
- Pearson, Glen J.
- Bergeron, Jean
- Francis, Gordon A.
- McCrindle, Brian W.
- Morrison, Katherine
- St-Pierre, Julie
- Henderson, Mélanie
- Hegele, Robert A.
- Genest, Jacques
- Goguen, Jeannette
- Gaudet, Daniel
- Paré, Guillaume
- Romney, Jacques
- Ransom, Thomas
- Bernard, Sophie
- Katz, Pamela
- Joy, Tisha R.
- Bewick, David
- Brophy, James
2018
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Genetics in medicine, 2020-03, Vol.22 (3), p.547-556
- Sanchez, Elodie
- Laplace-Builhé, Béryl
- Mau-Them, Frédéric Tran
- Richard, Eric
- Goldenberg, Alice
- Toler, Tomi L.
- Guignard, Thomas
- Gatinois, Vincent
- Vincent, Marie
- Blanchet, Catherine
- Boland, Anne
- Bihoreau, Marie Thérèse
- Deleuze, Jean-Francois
- Olaso, Robert
- Nephi, Walton
- Lüdecke, Hermann-Josef
- Verheij, Joke
- Moreau-Lenoir, Florence
- Denoyelle, Françoise
- Rivière, Jean-Baptiste
- Laplanche, Jean-Louis
- Willing, Marcia
- Captier, Guillaume
- Apparailly, Florence
- Wieczorek, Dagmar
- Collet, Corinne
- Djouad, Farida
- Geneviève, David
2020
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European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.701-710
- Chassagne, Aline
- Pélissier, Aurore
- Houdayer, Françoise
- Cretin, Elodie
- Gautier, Elodie
- Salvi, Dominique
- Kidri, Sarah
- Godard, Aurélie
- Thauvin-Robinet, Christel
- Masurel, Alice
- Lehalle, Daphné
- Jean-Marçais, Nolwenn
- Thevenon, Julien
- Lesca, Gaetan
- Putoux, Audrey
- Cordier, Marie-Pierre
- Dupuis-Girod, Sophie
- Till, Marianne
- Duffourd, Yannis
- Rivière, Jean-Baptiste
- Joly, Lorraine
- Juif, Christine
- Putois, Olivier
- Ancet, Pierre
- Lapointe, Anne-Sophie
- Morin, Paulette
- Edery, Patrick
- Rossi, Massimiliano
- Sanlaville, Damien
- Béjean, Sophie
- Peyron, Christine
- Faivre, Laurence
2019
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European journal of medical genetics, 2022-04, Vol.65 (4), p.104473-104473, Article 104473
2022
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Journal of child neurology, 2020-02, Vol.35 (2), p.106-110
2020
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Neurogenetics, 2019-05, Vol.20 (2), p.103-108
2019
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Journal of investigative dermatology, 2016-05, Vol.136 (5), p.1060-1062
2016
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European journal of medical genetics, 2022-02, Vol.65 (2), p.104405-104405, Article 104405
2022
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European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.770-782
- Nambot, Sophie
- Faivre, Laurence
- Mirzaa, Ghayda
- Thevenon, Julien
- Bruel, Ange-Line
- Mosca-Boidron, Anne-Laure
- Masurel-Paulet, Alice
- Goldenberg, Alice
- Le Meur, Nathalie
- Charollais, Aude
- Mignot, Cyril
- Petit, Florence
- Rossi, Massimiliano
- Metreau, Julia
- Layet, Valérie
- Amram, Daniel
- Boute-Bénéjean, Odile
- Bhoj, Elizabeth
- Cousin, Margot A
- Kruisselbrink, Teresa M
- Lanpher, Brendan C
- Klee, Eric W
- Fiala, Elise
- Grange, Dorothy K
- Meschino, Wendy S
- Hiatt, Susan M
- Cooper, Gregory M
- Olivié, Hilde
- Smith, Wendy E
- Dumas, Meghan
- Lehman, Anna
- Inglese, Cara
- Nizon, Mathilde
- Guerrini, Renzo
- Vetro, Annalisa
- Kaplan, Eitan S
- Miramar, Dolores
- Van Gils, Julien
- Fergelot, Patricia
- Bodamer, Olaf
- Herkert, Johanna C
- Pajusalu, Sander
- Õunap, Katrin
- Filiano, James J
- Smol, Thomas
- Piton, Amélie
- Gérard, Bénédicte
- Chantot-Bastaraud, Sandra
- Bienvenu, Thierry
- Li, Dong
- Juusola, Jane
- Devriendt, Koen
- Bilan, Frederic
- Poé, Charlotte
- Chevarin, Martin
- Jouan, Thibaud
- Tisserant, Emilie
- Rivière, Jean-Baptiste
- Tran Mau-Them, Frédéric
- Philippe, Christophe
- Duffourd, Yannis
- Dobyns, William B
- Hevner, Robert
- Thauvin-Robinet, Christel
2020
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Journal of genetics, 2020-12, Vol.99 (1), Article 47
2020
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European journal of medical genetics, 2020-11, Vol.63 (11), p.104036-104036, Article 104036
2020
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Journal of investigative dermatology, 2017-07, Vol.137 (7), p.1575-1578
2017
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JTO clinical and research reports, 2023-07, Vol.4 (7), p.100530-100530, Article 100530
2023
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Digital health, 2023-01, Vol.9, p.20552076231218808-20552076231218808
2023
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
- Mosca-Boidron, Anne-Laure
- Gueneau, Lucie
- Huguet, Guillaume
- Goldenberg, Alice
- Henry, Céline
- Gigot, Nadège
- Pallesi-Pocachard, Emilie
- Falace, Antonio
- Duplomb, Laurence
- Thevenon, Julien
- Duffourd, Yannis
- St-Onge, Judith
- Chambon, Pascal
- Rivière, Jean-Baptiste
- Thauvin-Robinet, Christel
- Callier, Patrick
- Marle, Nathalie
- Payet, Muriel
- Ragon, Clemence
- Goubran Botros, Hany
- Buratti, Julien
- Calderari, Sophie
- Dumas, Guillaume
- Delorme, Richard
- Lagarde, Nathalie
- Pinoit, Jean-Michel
- Rosier, Antoine
- Masurel-Paulet, Alice
- Cardoso, Carlos
- Mugneret, Francine
- Saugier-Veber, Pascale
- Campion, Dominique
- Faivre, Laurence
- Bourgeron, Thomas
2016
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American journal of human genetics, 2017-09, Vol.101 (3), p.369-390
2017
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Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628
2015
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