日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Further phenotypical delineation of DLG3-related neurodevelopmental disorders

DLG3相关神经发育障碍的进一步表型描述

Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome

在一个患有严重型斯奈德-罗宾逊综合征的大家族中鉴定出SMS基因的罕见分支点变异

Civit, Antoine; Ronce, Nathalie; Cogné, Benjamin; Besnard, Thomas; Laurenceau, David; Hubert, Catherine; Moizard, Marie-Pierre; Gueguen, Paul; Toutain, Annick; Vuillaume, Marie-Laure

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

辛普森-戈拉比-贝梅尔综合征(SGBS)的CUGC

Vuillaume, Marie-Laure; Moizard, Marie-Pierre; Baumer, Alessandra; Cottereau, Edouard; Brioude, Frédéric; Rauch, Anita; Toutain, Annick

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

X连锁智力低下和自闭症与NLGN4基因的突变有关,NLGN4基因是神经连接蛋白家族的成员。

Laumonnier, Frédéric; Bonnet-Brilhault, Frédérique; Gomot, Marie; Blanc, Romuald; David, Albert; Moizard, Marie-Pierre; Raynaud, Martine; Ronce, Nathalie; Lemonnier, Eric; Calvas, Patrick; Laudier, Béatrice; Chelly, Jamel; Fryns, Jean-Pierre; Ropers, Hans-Hilger; Hamel, Ben C J; Andres, Christian; Barthélémy, Catherine; Moraine, Claude; Briault, Sylvain

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

ATP7A基因第8外显子中的C2055T转换与枕角综合征家族中的外显子跳跃有关。

Ronce, N; Moizard, M P; Robb, L; Toutain, A; Villard, L; Moraine, C