Lv21
120 积分 2024-02-23 加入
Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant
2小时前
已完结
In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy
3小时前
已完结
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
2个月前
已完结
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature
3个月前
已完结
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
3个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
3个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
4个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
6个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
6个月前
已完结
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
6个月前
已完结
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