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Zafar Ali

university of swat
H指数:16
被引数:1,069

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Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings

资源有限环境下对肢体带型肌营养不良症的综合性诊断方法

2026-10-030
OAAI
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR

28个近亲婚配家庭中的眼皮肤白化病变异体及TYR基因中一个致病性深内含子变异体的功能分类

2026-03-110
OAAI
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects
BRAIN
IF11.7
2024-09-180
PRE
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

双等位基因MED27变体导致运动障碍的可变脑-小脑-变性

BRAIN
IF11.7
2023-07-303
OAAI
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
2021-11-0114
OAAI
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
2021-04-0116
OAAI
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
2017-10-1467
PREAI