Lv2
134 积分 2024-04-22 加入
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
9天前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
12天前
已完结
Novel SUZ12 mutations in Weaver-like syndrome
20天前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
1个月前
已完结
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
1个月前
已完结
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
2个月前
已关闭
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
2个月前
已完结
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
2个月前
已完结
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients
2个月前
已完结
Hypomagnesemia and seizures in a patient with an SOS1 mutation
2个月前
已关闭
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