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110 积分 2024-08-13 加入
A novel mutation inRNF216gene in an Indian case with Gordon Holmes syndrome
2天前
求助中
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes
2天前
已完结
Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review
2天前
已完结
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation
4天前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
20天前
已完结
Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies
20天前
已完结
遗传病基因变异全外显子组测序技术规范化应用专家共识
1个月前
已完结
遗传病基因变异全外显子组测序技术规范化应用专家共识
1个月前
已关闭
遗传病基因变异全外显子组测序技术规范化应用专家共识
1个月前
已关闭
(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature
2个月前
已完结
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