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68 积分 2024-11-25 加入
Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome
3天前
已完结
EGR2 Mutations in Brazilian Patients – a Clinical, Electrophysiological and Genetic Profile (P1.467)
5天前
已关闭
G.P.296
5天前
已完结
Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy
9天前
已完结
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
9天前
已完结
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
10天前
已关闭
Exploring genotype–phenotype correlations in glutaric aciduria type 1
10天前
已完结
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
16天前
已完结
Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
16天前
已完结
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy
17天前
已完结
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