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88 积分 2023-08-30 加入
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios
1个月前
已完结
Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations
1个月前
已完结
Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds
1个月前
已关闭
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
1个月前
已完结
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
1个月前
已完结
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
1个月前
已完结
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
2个月前
已关闭
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
2个月前
已完结
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations
3个月前
已完结
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
4个月前
已关闭
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