Lv4
560 积分 2026-01-16 加入
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2天前
已完结
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum
10天前
已完结
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
13天前
已关闭
Adult phenotype of KCNQ2 encephalopathy
13天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
15天前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
17天前
已完结
Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Genetic Anomalies of Growth Hormone Deficiency in Pediatrics
1个月前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
2个月前
已完结
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