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

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

首次报道一男一女染色体15q13细胞遗传学带上连续出现两次缺失:为15q13.3综合征提供补充数据,并报告了一例高智商患者。

Alsagob, Maysoon; Salih, Mustafa A; Hamad, Muddathir H A; Al-Yafee, Yusra; Al-Zahrani, Jawaher; Al-Bakheet, Albandary; Nester, Michael; Sakati, Nadia; Wakil, Salma M; AlOdaib, Ali; Colak, Dilek; Kaya, Namik

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

沙特阿拉伯一个近亲结婚家庭中,CRBN基因的错义突变与智力障碍和自残行为共分离。

Sheereen, Atia; Alaamery, Manal; Bawazeer, Shahad; Al Yafee, Yusra; Massadeh, Salam; Eyaid, Wafaa

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

NALCN基因突变会导致一种常染色体隐性遗传综合征,其特征为严重的肌张力低下、语言障碍和认知发育迟缓。

Al-Sayed, Moeenaldeen D; Al-Zaidan, Hamad; Albakheet, Albandary; Hakami, Hana; Kenana, Rosan; Al-Yafee, Yusra; Al-Dosary, Mazhor; Qari, Alya; Al-Sheddi, Tarfa; Al-Muheiza, Muhammed; Al-Qubbaj, Wafa; Lakmache, Yamina; Al-Hindi, Hindi; Ghaziuddin, Muhammad; Colak, Dilek; Kaya, Namik

Novel metabolic biomarkers related to sulfur-dependent detoxification pathways in autistic patients of Saudi Arabia

沙特阿拉伯自闭症患者中与硫依赖性解毒途径相关的新型代谢生物标志物

Al-Yafee, Yusra A; Al-Ayadhi, Laila Y; Haq, Samina H; El-Ansary, Afaf K