Lv33
340 积分 2025-07-18 加入
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA
5天前
已关闭
Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
6天前
已关闭
Neurological symptoms of familial hemophagocytic lymphohistiocytosis type 2
8天前
已完结
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
8天前
已完结
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
17天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
20天前
已完结
Deletion and duplication screening in the DMD gene using MLPA
21天前
已关闭
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
24天前
已完结
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]
26天前
已完结
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
28天前
已完结
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