Lv52
1100 积分 2022-11-01 加入
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease
8天前
已完结
Variants in the Enteric Smooth Muscle Actin γ‐2 Cause Pediatric Intestinal Pseudo‐obstruction in Chinese Patients
14天前
已完结
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population
24天前
已关闭
Oculocerebrorenal syndrome of Lowe: Three mutations in the OCRL1 gene derived from three patients with different phenotypes
29天前
已完结
Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
1个月前
已完结
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
1个月前
已关闭
Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of Sensorineural Hearing Loss in a Childhood Hearing Loss Unit
2个月前
已完结
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes
2个月前
已完结
[Novel GATA4 mutations identified in patients with congenital atrial septal defects]
2个月前
已关闭
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
2个月前
已关闭
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