Lv2
108 积分 2025-06-10 加入
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
19小时前
已完结
The role of pathogenic TCF12 variants in children with coronal craniosynostosis—a systematic review with addition of two novel cases
2天前
已完结
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis
2天前
已完结
Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population
8天前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
15天前
已完结
Understanding Musculoskeletal Disorders Through Next-Generation Sequencing
18天前
已完结
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome
18天前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
22天前
已完结
ATP7B Gene Mutations in Croatian Patients with Wilson Disease
29天前
已完结
The utility of hierarchical genetic testing in paediatric liver disease
29天前
已完结
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