Lv51
1444 积分 2025-07-18 加入
An Effect of Gene Dosage on Production of Human Chorionic Somatomammotropin*
6天前
已完结
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study
10天前
已完结
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature
16天前
已完结
Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families
16天前
已完结
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
25天前
已完结
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
1个月前
已完结
Effect of familial clustering in the genetic screening of 235 French ALS families
1个月前
已完结
PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY
1个月前
已完结
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
1个月前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
1个月前
已完结
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