Lv6
1990 积分 2022-11-09 加入
Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family
9天前
已完结
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis
14天前
已完结
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct
23天前
已完结
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome
23天前
已完结
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss
23天前
已完结
Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study
28天前
已完结
How I treat Wiskott-Aldrich syndrome
28天前
已完结
黏多糖贮积症Ⅱ型临床诊断与治疗专家共识
28天前
已完结
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
1个月前
已完结
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