Lv1
50 积分 2023-05-11 加入
Human d‐Glycerate Kinase, Encoded by GLYCTK and Deficient in d‐Glyceric Aciduria, Is a Mitochondrial Enzyme
1个月前
已完结
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
3个月前
已关闭
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
3个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
4个月前
已完结
Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation
9个月前
已关闭
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