Lv5
914 积分 2023-10-26 加入
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
1天前
已完结
Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease
1天前
已完结
The R271W mutant form of Pit-1 does not act as a dominant inhibitor of Pit-1 action to activate the promoters of GH and prolactin genes
1天前
已完结
SRPX2 mutations in disorders of language cortex and cognition
4天前
已完结
[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis]
7天前
已关闭
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
7天前
已完结
Muscle biochemical and pathological diagnosis in Pompe disease
9天前
已完结
New GAA mutations in japanese patients with GSDII (pompe disease)
9天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
9天前
已完结
Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture
10天前
已完结
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