Lv21
130 积分 2024-02-23 加入
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
1小时前
已完结
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature
1个月前
已完结
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
1个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
2个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
4个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
4个月前
已完结
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
4个月前
已完结
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
5个月前
已完结
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
5个月前
已完结
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