Lv5
940 积分 2024-05-20 加入
Intrafamilial Variability of IMPG1-Associated Vitelliform Dystrophy
9小时前
已关闭
Expanding the phenotypical spectrum of the c.1876C>T p.(Leu626Phe) variant in IMPG1‐associated disease
10小时前
已完结
[A family of tumor necrosis factor receptor-associated periodic syndrome]
16小时前
已完结
[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C]
7天前
已完结
Genetic bases of human complement C7 deficiency
9天前
已关闭
Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia
9天前
已完结
Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: results from a national referral center
16天前
已完结
Revisiting pachyonychia congenita: a case-cohort study of 815 patients
1个月前
已完结
A large mutational study in pachyonychia congenita
1个月前
已完结
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
1个月前
已关闭
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