Lv1
46 积分 2024-11-23 加入
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra
2天前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
18天前
已完结
Successful treatment of oral potentially malignant lesions with ruxolitinib in STAT3 gain-of-function disease
19天前
已完结
Erythrokeratodermia Variabilis et Progressiva With Compound Heterozygous ABCA12 Variants
1个月前
已完结
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants
1个月前
已完结
Utility of genetic testing in children with leukodystrophy
2个月前
已完结
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
2个月前
已完结
Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population
2个月前
已完结
Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population
2个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
2个月前
已完结
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