Lv1
40 积分 2024-04-24 加入
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing
9天前
已完结
Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy
2个月前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
2个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
2个月前
已完结
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
3个月前
已完结
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants
3个月前
已完结
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
4个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
5个月前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
7个月前
已完结
Evidence for 28 genetic disorders discovered by combining healthcare and research data
8个月前
已完结
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