Lv3
392 积分 2024-10-16 加入
Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
11天前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
24天前
已完结
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
24天前
已完结
Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
2个月前
已完结
Diagnosis and management of primary hyperoxalurias: best practices
2个月前
已完结
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
3个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
3个月前
已完结
[Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing]
4个月前
已完结
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
6个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
6个月前
已完结
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