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32 积分 2024-11-25 加入
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A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A
7小时前
待确认
[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene]
13小时前
已完结
A Novel Missense Substitution in NSUN2 and a Stop Codon in ASPM Causes Neurological Disorders in Pakistani Families
1天前
已关闭
Structure-driven RNA remodeling underlies broad substrate recognition by NSUN2
1天前
已完结
The spectrum of SCN1A-related infantile epileptic encephalopathies
6天前
已完结
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
8天前
已完结
A 5.3 Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay
8天前
已完结
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
8天前
已完结
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness
8天前
已完结
BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma
13天前
已完结
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