Lv2
118 积分 2024-02-23 加入
Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation
8天前
已完结
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families
29天前
已完结
Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant
1个月前
已完结
In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy
1个月前
已完结
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
3个月前
已完结
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature
4个月前
已完结
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
5个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
5个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
5个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
8个月前
已完结
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