Lv41
600 积分 2026-01-16 加入
ABCC8 gene analysis, treatment and follow-up of an infant with neonatal diabetes mellitus
1天前
已完结
[Clinical application of STR genotyping diagnosis for hydatidiform mole and nonmolar gestation]
1个月前
已完结
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus
1个月前
已完结
Hydatidiform mole
1个月前
已关闭
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1个月前
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
2个月前
已完结
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
2个月前
已关闭
Adult phenotype of KCNQ2 encephalopathy
2个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2个月前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
2个月前
已完结