Lv41
490 积分 2025-07-18 加入
[Clinical features and genetics studies of Finnish variant late infantile neuronal ceroid lipofuscinosis in two families]
1小时前
已完结
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
2个月前
已关闭
Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
2个月前
已关闭
Neurological symptoms of familial hemophagocytic lymphohistiocytosis type 2
2个月前
已完结
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
2个月前
已完结
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
2个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2个月前
已完结
Deletion and duplication screening in the DMD gene using MLPA
2个月前
已关闭
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
2个月前
已完结
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]
2个月前
已完结
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