Lv21
168 积分 2025-05-23 加入
Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study
6小时前
已关闭
Clinical features of patients with mutations in genes for nanophthalmos
4天前
已完结
Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in the fibrillin 1 (FBN1) gene
16天前
已完结
COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa
20天前
已完结
Unveiling ten novel SETX mutations: implications for ALS pathogenesis and clinical diversity
1个月前
已完结
Identification of novel variants in SSX1, CPNE1, and SPTBN5 in men with oligoasthenoteratozoospermia using whole-genome sequencing
1个月前
已关闭
Expanding the mutational spectrum of FHONDA syndrome
1个月前
已完结
Integrated genotype–phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2 ‐related disorders
1个月前
已完结
TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem proteinopathy
2个月前
已关闭
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
2个月前
已完结
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