Lv5
820 积分 2024-08-07 加入
FSIP2 plays a role in the acrosome development during spermiogenesis
8天前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
9天前
已完结
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
14天前
已完结
P593: Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification
1个月前
已完结
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease
9个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
11个月前
已完结
Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant
11个月前
已完结
[Analysis of clinical manifestations and genetic characteristics of a late-onset auditory neuropathy pedigree caused by a mitochondrial
11个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
11个月前
已完结
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy
11个月前
已完结
皖公网安备34019202002308
