Lv41
700 积分 2021-12-01 加入
[Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes]
4天前
求助中
Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation
4天前
已完结
Infantile nephrocalcinosis with chronic diarrhea
5天前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
5天前
已完结
Rhabdomyolysis associated with OBSCN mutations: case report and mechanistic review
1个月前
已完结
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population
1个月前
已完结
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
1个月前
已完结
Human Mitochondrial Protein HSPD1 Binds to and Regulates the Repair of Deoxyinosine in DNA
1个月前
已完结
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
1个月前
已完结
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