Lv11
100 积分 2024-10-14 加入
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients
25天前
已完结
[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency]
26天前
已完结
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl‐coenzyme A thiolase gene in two Swiss patients with CRM‐negative β‐ketothiolase deficiency
26天前
已完结
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl‐coenzyme A thiolase gene in two Swiss patients with CRM‐negative β‐ketothiolase deficiency
26天前
已关闭
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
26天前
已完结
Clinical exome sequencing findings in 1589 patients
1个月前
已完结
Novel homozygous ADK Out-of-Frame Deletion Causes Adenosine Kinase Deficiency with Rare Phenotypes of Sepsis, Metabolites Disruption and Neutrophil Dysfunction
1个月前
已完结
CaSR modulates sodium channel-mediated Ca2+-dependent excitability
1个月前
已关闭
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature
1个月前
已完结
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
1个月前
已完结
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