Lv11
100 积分 2026-04-17 加入
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
3天前
已完结
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients
4天前
已完结
Widefield Retinal Imaging in Gyrate Atrophy: Correlation of Structural, Biochemical, and Functional Characteristics
4天前
已完结
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance
4天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
9天前
已完结
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene
14天前
已关闭
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
14天前
已关闭
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
16天前
已完结
Next-generation sequencing for genetic testing of hearing loss populations
16天前
已完结
Next-generation sequencing for genetic testing of hearing loss populations
16天前
已完结
Pathophysiology of Primary Familial Brain Calcification
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