Lv51
1240 积分 2022-11-09 加入
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis
2小时前
待确认
Mutation spectra ofABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI)
2小时前
已完结
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies
2小时前
已完结
Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes
4天前
已完结
[Genetic analysis of a juvenile with maturity-onset diabetes of the young type 12]
4天前
已完结
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
9天前
已完结
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
9天前
已完结
Compound heterozygous variants of MTHFR presenting as treatable leukodystrophy with reversible visuospatial deficits
10天前
已完结
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
11天前
已完结
嗜铬细胞瘤和副神经节瘤诊断治疗专家共识(2020版)
1个月前
已完结
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