Lv4
540 积分 2025-05-27 加入
Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis
1天前
待确认
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis
14天前
已关闭
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis
14天前
已完结
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience
17天前
已完结
Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis
21天前
已完结
Clinical and Genetic Etiologies of Neonatal Unconjugated Hyperbilirubinemia in the China Neonatal Genomes Project
21天前
已完结
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
27天前
已完结
MECP2-related conditions in males: A systematic literature review and 8 additional cases
27天前
已完结
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
27天前
已关闭
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
27天前
已完结
皖公网安备34019202002308
