Lv42
430 积分 2024-01-30 加入
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1天前
已完结
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
14天前
已关闭
Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype
1个月前
已关闭
Correction to: MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
2个月前
已关闭
Genome-wide Analysis of Myelodysplastic Syndromes
2个月前
已完结
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
3个月前
已完结
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
3个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
3个月前
已完结
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
5个月前
已关闭
Dostarlimab for Primary Advanced or Recurrent Endometrial Cancer
6个月前
已完结
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