Lv2
190 积分 2024-04-24 加入
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1天前
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New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling ofSRD5A2in 190 Chinese patients
13天前
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Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy
14天前
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Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
20天前
已完结
A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10
22天前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
1个月前
已完结
Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies
1个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
1个月前
已完结
Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report
1个月前
已完结
[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]
1个月前
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