Lv3
390 积分 2024-01-30 加入
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
18天前
已完结
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson’s Disease in Sporadic Moroccan Patients
24天前
已完结
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
1个月前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1个月前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1个月前
已完结
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
2个月前
已关闭
Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype
3个月前
已关闭
Correction to: MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
3个月前
已关闭
Genome-wide Analysis of Myelodysplastic Syndromes
4个月前
已完结
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
5个月前
已完结
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