未登录A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies一项大型队列研究重新定义了产前外显子测序在胎儿胼胝体畸形诊断中的应用。
Heron, Delphine; Gerasimenko, Anna; Frugere, Lisa; Ducourneau, Jade; Rossi, Capucine; Nava, Caroline; De Sainte-Agathe, Jean-Madeleine; Mignot, Cyril; Lehalle, Daphne; Grotto, Sarah; El-Khattabi, Laila; Nguyen, Toan; Garel, Catherine; Blondiaux, Eleonore; Milh, Mathieu; Desnous, Beatrice; Girard, Nadine; des Portes, Vincent; Guibaud, Laurent; Sabatier, Isabelle; Patat, Olivier; Julia, Sophie; Benachi, Alexandra; Vivanti, Alexandre; Picone, Olivier; Guet, Agnes; Nizon, Mathilde; Vincent, Marie; Conrad, Solene; Le Vaillant, Claudine; Billette De Villemeur, Thierry; Moutton, Sebastien; Tsatsaris, Vassilis; Guilbaud, Lucie; Jouannic, Jean-Marie; Valence, Stephanie; Keren, Boris; Heide, Solveig .png)
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收藏Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)Viora-Dupont, Eleonore; Robert, Francoise; Chassagne, Aline; Pelissier, Aurore; Staraci, Stephanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frederic; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Heron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence 分享 收藏 IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset AtaxiaHeide, Solveig; Davoine, Claire-Sophie; Cunha, Paulina; Scherer-Gagou, Clarisse; Keren, Boris; Stevanin, Giovanni; Charles, Perrine; Heron, Delphine; Brice, Alexis; Durr, Alexandra 分享 收藏 Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesRinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S. 分享 收藏 Further characterisation of ARX-related disorders in females due to inherited or de novo variantsGras, Mathilde; Heide, Solveig; Keren, Boris; Valence, Stephanie; Garel, Catherine; Whalen, Sandra; Jansen, Anna C.; Keymolen, Kathelijn; Stouffs, Katrien; Jennesson, Melanie; Poirsier, Celine; Lesca, Gaetan; Depienne, Christel; Nava, Caroline; Rastetter, Agnes; Curie, Aurore; Cuisset, Laurence; Des Portes, Vincent; Milh, Mathieu; Charles, Perrine; Mignot, Cyril; Heron, Delphine 分享 收藏 Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille 分享 收藏 Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disordersLanghammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane 分享 收藏 分享 收藏 Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X人类X染色体单基因疾病相关基因的系统分析和预测Leitao, Elsa; Schroeder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnes; Kuehnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gerard, Benedicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Benedicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Mau-Them, Frederic Tran; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Heron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amelie; Depienne, Christel 分享 收藏 Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingHoltz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A. 分享 收藏 CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureCDK13-related障碍: 一系列18个以前未发表的个体的报告和表观遗传特征的描述Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andree; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David 分享 收藏 PIGN encephalopathy: Characterizing the epileptologyBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. 分享 收藏 MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsCoursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle M.; Schramm, Catherine; Zamora, Francisca Millan; Shanmugham, Anita; Liu, Shuxi; Zou, Fanggeng; Bilan, Frederic; Le Guyader, Gwenael; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Mau-Them, Frederic Tran; Tessarech, Marine; Colin, Estelle; El Chehadeh, Salima; Gerard, Benedicte; Schaefer, Elise; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Doummar, Diane; Valence, Stephanie; Heron, Delphine; Keren, Boris; Mignot, Cyril; Coutton, Charles; Devillard, Francoise; Alaix, Anne-Sophie; Amiel, Jeanne; Colleaux, Laurence; Munnich, Arnold; Poirier, Karine; Rio, Marlene; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Bjoern; Chung, Wendy K.; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth A.; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia G.; Kritzer, Amy; Jouret, Guillaume; Afenjar, Alexandra; Deleuze, Jean-Francois; Olaso, Robert; Boland, Anne; Poitou, Christine; Frebourg, Thierry; Houdayer, Claude; Saugier-Veber, Pascale; Nicolas, Gael; Lecoquierre, Francois 分享 收藏 Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyVoisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre 分享 收藏 Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita未诊断的多发性先天性关节畸形的表型谱和基因组学Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith 分享 收藏 Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, Sandra; Shaw, Marie; Mignot, Cyril; Heron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoelle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renee; Hartley, Jessica N.; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent 分享 收藏 De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic featuresBuratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Heron, Delphine; Cong, Feng; Harel, Tamar 分享 收藏 Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability马法样习惯性和智力障碍患者染色质重塑相关基因的从头变异过多Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sebastien; Lecoquierre, Francois; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard, Fanny; Van-Gils, Julien; Munnich, Arnold; Lyonnet, Stanislas; Cormier-Daire, Valerie; Baujat, Genevieve; Holder, Muriel; Petit, Florence; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Lopez, Gipsy; Genevieve, David; Collignon, Patrick; Martin-Coignard, Dominique; Jacquette, Aurelia; Perrin, Laurence; Putoux, Audrey; Sarrazin, Elisabeth; Amarof, Khadija; Missotte, Isabelle; Coubes, Christine; Jagadeesh, Sujatha; Lapi, Elisabetta; Demurger, Florence; Goldenberg, Alice; Doco-Fenzy, Martine; Mignot, Cyril; Heron, Delphine; Jean-Marcais, Nolwenn; Masurel, Alice; El Chehadeh, Salima; Marle, Nathalie; Huet, Frederic; Binquet, Christine; Collod-Beroud, Gwenaelle; Arnaud, Pauline; Hanna, Nadine; Boileau, Catherine; Jondeau, Guillaume; Olaso, Robert; Lechner, Doris; Poe, Charlotte; Assoum, Mirna; Carmignac, Virginie; Duplomb, Laurence; Tran Mau-Them, Frederic; Philippe, Christophe; Vitobello, Antonio; Bruel, Ange-Line; Boland, Anne; Deleuze, Jean-Francois; Thauvin-Robinet, Christel; Riviere, Jean-Baptiste; O'Roak, Brian J.; Faivre, Laurence 分享 收藏 PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migrationDuarte, Kevin; Heide, Solveig; Poea-Guyon, Sandrine; Rousseau, Veronique; Depienne, Christel; Rastetter, Agnes; Nava, Caroline; Attie-Bitach, Tania; Razavi, Ferechte; Martinovic, Jelena; Moutard, Marie Laure; Cherfils, Jacqueline; Mignot, Cyril; Heron, Delphine; Barnier, Jean-Vianney 分享 收藏 
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