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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

WASHC3基因(WASH复合体的一个组成部分)的变异会导致身材矮小、不同程度的神经发育异常和独特的面部畸形。

Jee, Youn Hee; Lui, Julian C; Marafi, Dana; Xia, Zhi-Jie; Bhatia, Ruchika; Zhou, Elaine; Herman, Isabella; Temnycky, Adrian; Whalen, Philip; Elliot, Gene; Leschek, Ellen W; Wijngaard, Robin; van Beek, Ronald; de Vreugd, Annemarie; de Vries, Maaike C; van Karnebeek, Clara D M; Oud, Machteld M; Markello, Thomas C; Barnes, Kevin M; Alrohaif, Hadil; Freeze, Hudson H; Gahl, William A; Malicdan, May Christine V; Posey, Jennifer E; Lupski, James R; Baron, Jeffrey

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

FILIP1 的双等位基因变异会导致先天性肌病、畸形和神经系统缺陷

Andreas Roos, Peter F M van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, Joachim Weis, Marvin Aßent, Stefanie Beck-Wödl, Rita Barresi, Ana Töpf, Kaela O'Connor, Albert Sickmann, Nicolai Kohlschmidt, Magdeldin El Gizouli, Nancy Meyer, Nassam Daya, Valentina Grande, Karin Bo

Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East

病例报告:中东地区杜氏肌营养不良症的基因诊断

Alghamdi, Fouad; Al-Tawari, Asmaa; Alrohaif, Hadil; Alshuaibi, Walaa; Mansour, Hicham; Aartsma-Rus, Annemieke; Mégarbané, André