Lv4
670 积分 2023-01-30 加入
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
22小时前
求助中
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
3天前
已关闭
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
18天前
已完结
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
21天前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
1个月前
已完结
Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene
1个月前
已完结
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Meckel-Gruber syndrome]
1个月前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
1个月前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
1个月前
已关闭
ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish
1个月前
已完结
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