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

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

对404名由CTNNB1变异引起的神经发育障碍患者进行基因组和表型特征分析

Sayaka Kayumi,Luis A Pérez-Jurado,María Palomares,Sneha Rangu,Sarah E Sheppard,Wendy K Chung,Michael C Kruer,Mira Kharbanda,David J Amor,George McGillivray,Julie S Cohen,Sixto García-Miñaúr,Clare L van Eyk,Kelly Harper,Lachlan A Jolly,Dani L Webber,Christopher P Barnett,Fernando Santos-Simarro,Marta Pacio-Míguez,Angela Del Pozo,Somayeh Bakhtiari,Matthew Deardorff,Holly A Dubbs,Kosuke Izumi,Katheryn Grand,Christopher Gray,Paul R Mark,Elizabeth J Bhoj,Dong Li,Xilma R Ortiz-Gonzalez,Beth Keena,Elaine H Zackai,Ethan M Goldberg,Guiomar Perez de Nanclares,Arrate Pereda,Isabel Llano-Rivas,Ignacio Arroyo,María Ángeles Fernández-Cuesta,Christel Thauvin-Robinet,Laurence Faivre,Aurore Garde,Benoit Mazel,Ange-Line Bruel,Michael L Tress,Eva Brilstra,Amena Smith Fine,Kylie E Crompton,Alexander P A Stegmann,Margje Sinnema,Servi C J Stevens,Joost Nicolai,Gaetan Lesca,Laurence Lion-François,Damien Haye,Nicolas Chatron,Amelie Piton,Mathilde Nizon,Benjamin Cogne,Siddharth Srivastava,Jennifer Bassetti,Candace Muss,Karen W Gripp,Rebecca A Procopio,Francisca Millan,Michelle M Morrow,Melissa Assaf,Andres Moreno-De-Luca,Shelagh Joss,Mark J Hamilton,Marta Bertoli,Nicola Foulds,Shane McKee,Alastair H MacLennan,Jozef Gecz,Mark A Corbett

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

根据缺失片段的大小,猫叫综合征可表现为类似Silver-Russell综合征的症状:病例报告

Yerai Vado ,Javier Errea-Dorronsoro ,Isabel Llano-Rivas ,Nerea Gorria ,Arrate Pereda ,Blanca Gener ,Laura Garcia-Naveda ,Guiomar Perez de Nanclares

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

靶向高通量测序揭示罕见的核苷酸切除修复表型

Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanca; Julia, Sophie; Llano-Rivas, Isabel; Mazur, Artur; Michot, Caroline; Renaldo-Robin, Florence; Rossi, Massimiliano; Sabouraud, Pascal; Keren, Boris; Depienne, Christel; Muller, Jean; Mandel, Jean-Louis; Laugel, Vincent