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10 积分 2024-12-23 加入
Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience
10小时前
已完结
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort
13小时前
求助中
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
1个月前
已完结
Correction: 2020 Western Medical Research Conference
1个月前
已关闭
Inactivation of CHEK1 and EI24 is associated with the development of invasive cervical carcinoma: Clinical and prognostic implications
1个月前
已完结
SUFU‐associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
1个月前
已完结
Case series: Downbeat nystagmus in SCA27B
1个月前
已完结
Ovarian squamous cell carcinoma associated with teratoma: a report of six cases with genomic analysis
1个月前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
2个月前
已完结
Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
2个月前
已完结
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