Lv11
34 积分 2022-03-11 加入
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
54分钟前
待确认
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
1小时前
已完结
Distinct features in adult polyglucosan body disease: a case series
22天前
已完结
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
26天前
已完结
Dystrophic epidermolysis bullosa characterized by mucosal lesions in a Chinese familial case with a novel compound heterozygous mutation of COL7A1
29天前
已完结
Peripheral Blood–Derived PD-1/CD28–CD19 CAR–Modified PD-1+ T-Cell Therapy in Patients with Solid Tumors
1个月前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
3个月前
已完结
Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias
3个月前
已完结
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