Lv1
88 积分 2024-12-02 加入
Identification of novel mutations in the NPC1 gene in German patients with Niemann–Pick C disease
16小时前
待确认
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease
17小时前
已完结
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
18小时前
已完结
DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome
8天前
已完结
[Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene]
22天前
已完结
一例Xq25微重复胎儿的遗传学分析及产前诊断
22天前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
1个月前
已完结
Strain-dependent embryonic lethality in mice lacking the retinoblastoma-related p130 gene
1个月前
已关闭
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
3个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
3个月前
已完结
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