Lv1
28 积分 2024-11-15 加入
Severe congenital myasthenic syndrome with novel variants in the CHRND gene
13天前
已完结
Faculty Opinions recommendation of Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
21天前
已完结
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
21天前
已完结
One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype–phenotype correlation analysis
25天前
已完结
A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies
25天前
已完结
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families
29天前
已关闭
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21
30天前
已关闭
Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female
1个月前
已完结
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity
1个月前
已关闭
WITHDRAWN: Clinical interpretation of PRSS1 gene variants in patients with pancreatitis
1个月前
已完结
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