Lv32
308 积分 2024-04-24 加入
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
42分钟前
已完结
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
2小时前
已完结
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
2小时前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
4天前
已完结
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights
7天前
已完结
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia
11天前
已完结
A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia
12天前
已完结
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene
14天前
已完结
Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene
14天前
已完结
Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration
15天前
已完结
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