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

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant

ADAT3相关神经发育障碍在24例新患者中发现,p.Val144Met突变频率较高,并存在一个新的创始人变异。

Rafat, Karima; Abdel-Aleem, Asmaa F; Elbendary, Hasnaa M; Issa, Mahmoud Y; Essawi, Mona L; Abdel-Ghafar, Sherif F; Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Zaki, Maha S

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

HPDL变异类型与临床疾病的发病和严重程度相关

Lee, Eun Hye; Kim-Mcmanus, Olivia; Yang, Jennifer H; Haas, Richard; Zaki, Maha S; Abdel-Salam, Ghada M H; Nakamura, Yuji; Abdel-Hamind, Mohamed S; Ebrahimi-Fakhari, Darius; Alecu, Julian E; Brunetti-Pierri, Nicola; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Gross, Stephanie; Alanay, Yasemin; Najarzadeh Totbati, Paria; Yadavilli, Manya; Friedman, Liana; Ojeda, Naomi Meave; Gleeson, Joseph G

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients

埃及患者的印记障碍分子特征:贝克威思-威德曼综合征、西尔弗-罗素综合征和普拉德-威利综合征

Mohamed, Amal M; Eid, Ola; Farid, Marwa; Ashaat, Engy; Abdel-Salam, Ghada M H; El-Bassyouni, Hala T; Essa, Mahmoud; Mahrous, Rana; Erian, Peter S F; Refaat, Khaled M; Fayez, Alaaeldin; Zaki, Maha

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

GON4L基因的双等位基因功能缺失变异会导致小头畸形和脑结构异常。

Simo Li #,Sanami Takada #,Ghada M H Abdel-Salam,Mohamed S Abdel-Hamid,Maha S Zaki,Mahmoud Y Issa,Aida M S Salem,Eriko Koshimizu,Atsushi Fujita,Ryoko Fukai,Toshio Ohshima,Naomichi Matsumoto,Noriko Miyake

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder

对MADD相关神经发育障碍的临床和分子谱的新见解

Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations

对埃及脑桥小脑畸形患者进行TSEN54变异筛查

Emam, Bayoumi A; Abdel-Hamid, Mohamed S; Eid, Maha; Girgis, Marian; Ragab, Omar A; Zaki, Maha S; El-Kiki, Hassan; Abdel-Hady, Sawsan; Abdel-Salam, Ghada M H

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

双等位基因 MAD2L1BP (p31comet) 突变与嵌合性非整倍体和幼年颗粒细胞肿瘤相关

Ghada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M Eid, Holger Thiele, Peter Nürnberg, Birgit S Budde, Mohammad Reza Toliat, Ines B Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Moh

X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features

伴有新型L1CAM致病变异的X连锁脑积水:最常见分子和表型特征综述

Ahmed, Rania R; Medhat, Amina M; Hamdy, Germine M; Effat, Laila K E; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M H

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

患有DDX3X相关智力障碍的女孩的丹迪-沃克畸形

Rafat, Karima; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M H

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

双等位基因 FRA10AC1 变异会导致神经发育障碍和生长迟缓

Leonie von Elsner, Guoliang Chai, Pauline E Schneeberger, Frederike L Harms, Christian Casar, Minyue Qi, Malik Alawi, Ghada M H Abdel-Salam, Maha S Zaki, Florian Arndt, Xiaoxu Yang, Valentina Stanley, Maja Hempel, Joseph G Gleeson, Kerstin Kutsche