Lv41
470 积分 2025-04-29 加入
Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry
3天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
7天前
已完结
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran
11天前
已完结
Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings
15天前
已关闭
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
16天前
已完结
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
16天前
已关闭
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations
22天前
已完结
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
28天前
已完结
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies
28天前
已完结
Genetic and clinical characteristics of ALS patients with NEK1 gene variants
1个月前
已完结
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