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14 积分 2024-07-18 加入
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder
8小时前
已完结
Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia
8小时前
已完结
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
8小时前
已关闭
Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg3500→Gln mutation in hyperlipidemic Chinese
1天前
已完结
Male-to-male transmission in extended pedigrees with multiple cases of autism
2天前
已完结
Male-to-male transmission in extended pedigrees with multiple cases of autism
2天前
已关闭
X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15
8天前
已完结
Fat embolism syndrome
9天前
已完结
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
11天前
已关闭
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