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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 分享 收藏
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants Gras, 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
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis Heide, Solveig; Argilli, Emanuela; Valence, Stephanie; Boutaud, Lucile; Roux, Nathalie; Mignot, Cyril; Nava, Caroline; Keren, Boris; Giraudat, Kim; Faudet, Anne; Gerasimenko, Anna; Garel, Catherine; Blondiaux, Eleonore; Rastetter, Agnes; Grevent, David; Le, Carolyn; Mackenzie, Lisa; Richards, Linda; Attie-Bitach, Tania; Depienne, Christel; Sherr, Elliott; Heron, Delphine 分享 收藏
Spectrum of brain malformations in fetuses with mild tubulinopathy Hagege, R.; Haratz, K. Krajden; Malinger, G.; Ben-Sira, L.; Leibovitz, Z.; Heron, D.; Burglen, L.; Birnbaum, R.; Valence, S.; Keren, B.; Blumkin, L.; Jouannic, J. -m.; Lerman-Sagie, T.; Garel, C. 分享 收藏
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Gafner, M.; Garel, C.; Leibovitz, Z.; Valence, S.; Haratz, K. Krajden; Oegema, R.; Mancini, G. M. S.; Heron, D.; Bueltmann, E.; Burglen, L.; Rodriguez, D.; Huisman, T. A. G. M.; Lequin, M. H.; Arad, A.; Kidron, D.; Muqary, M.; Gindes, L.; Lev, D.; Boltshauser, E.; Lerman-Sagie, T. 分享 收藏
Gain- of- function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stephanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris 分享 收藏
New insights into CC2D2A-related Joubert syndrome Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gerard, Frederique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frederic; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Heron, Benedicte; Laroche, Cecile; Lebrun, Marine; Metreau, Julia; Odent, Sylvie; Pasquier, Laurent; Trujillo, Yaumara Perdomo; Perrin, Laurine; Pinson, Lucile; Rivier, Francois; Sigaudy, Sabine; Thauvin-Robinet, Christel; Louvier, Ulrike Walther; Labayle, Olivier; Rodriguez, Diana; Valence, Stephanie; Burglen, Lydie 分享 收藏
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations 优化欧洲软骨发育不全的诊断和转诊: 欧洲软骨发育不全论坛最佳实践建议 Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio B.; Mohnike, Klaus 分享 收藏
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation Coolen, Marion; Altin, Nami; Rajamani, Karthyayani; Pereira, Eva; Siquier-Pernet, Karine; Lombardi, Emilia Puig; Moreno, Nadjeda; Barcia, Giulia; Yvert, Marianne; Laquerriere, Annie; Pouliet, Aurore; Nitschke, Patrick; Boddaert, Nathalie; Rausell, Antonio; Razavi, Ferechte; Afenjar, Alexandra; de Villemeur, Thierry Billette; Al-Maawali, Almundher; Al-Thihli, Khalid; Baptista, Julia; Beleza-Meireles, Ana; Garel, Catherine; Legendre, Marine; Gelot, Antoinette; Burglen, Lydie; Moutton, Sebastien; Cantagrel, Vincent 分享 收藏
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions Maurice, P.; Guilbaud, L.; Garel, J.; Mine, M.; Dugas, A.; Friszer, S.; Maisonneuve, E.; Moutard, M. -L.; Coste, T.; Heron, D.; Tournier-Lasserve, E.; Garel, C.; Jouannic, J. -M. 分享 收藏
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VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis Lunati, Ariane; Petit, Arnaud; Lapillonne, Helene; Gameiro, Christine; Saillour, Virginie; Garel, Catherine; Doummar, Diane; Qebibo, Leila; Aissat, Abdelrazak; Fanen, Pascale; Bartolucci, Pablo; Galacteros, Frederic; Funalot, Benoit; Burglen, Lydie; Mansour-Hendili, Lamisse 分享 收藏
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation 65例胼胝体异常胎儿的产前外显子组测序: 对进一步诊断的贡献 Heide, Solveig; Spentchian, Myrtille; Valence, Stephanie; Buratti, Julien; Mlt, Corinne Mach; Lejeune, Elodie; Olin, Valerie; Massimello, Marta; Lehalle, Daphne; Mouthon, Linda; Whalen, Sandra; Faudet, Anne; Mignot, Cyril; Garel, Catherine; Blondiaux, Eleonore; Lefebvre, Mathilde; Quenum-Miraillet, Genevieve; Chantot-Bastaraud, Sandra; Milh, Mathieu; Bretelle, Florence; des Portes, Vincent; Guibaud, Laurent; Putoux, Audrey; Tsatsaris, Vassili; Spodenkiewic, Marta; Layet, Valerie; Dard, Rodolphe; Mandelbrot, Laurent; Guet, Agnes; Moutton, Sebastien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Beneteau, Claire; Rocchisanni, Marie-Amelie; Benachi, Alexandra; Saada, Julien; Attie-Bitach, Tania; Guilbaud, Lucie; Maurice, Paul; Friszer, Stephanie; Jouannic, Jean-Marie; de Villemeur, Thierry Billette; Moutard, Marie-Laure; Keren, Boris; Heron, Delphine 分享 收藏
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