Lv4
690 积分 2025-04-29 加入
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3
13天前
已完结
[ABCA4 mutations and phenotype of different hereditary retinopathies in 3 pedigrees]
20天前
已完结
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
29天前
已完结
EARLY-ONSET OF FAMILIAL EXUDATIVE VITREORETINOPATHY: Clinical Characteristics, Management, and Outcomes
1个月前
已完结
Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry
1个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran
1个月前
已完结
Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings
2个月前
已关闭
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
2个月前
已完结
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
2个月前
已关闭
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