Lv11
40 积分 2025-02-08 加入
5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature
3小时前
已完结
Genotype-Phenotype Correlations in Chronic Granulomatous Disease: Insights From a Large National Cohort
1个月前
已完结
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
2个月前
已完结
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy
2个月前
已完结
Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum
2个月前
已完结
Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma
3个月前
已完结
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
3个月前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
3个月前
已完结
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation
4个月前
已完结
The Genomic and Phenotypic Landscape of Ichthyosis
6个月前
已完结
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