Lv3
280 积分 2024-04-11 加入
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis
4天前
已关闭
Intellectual developmental disorder 56 associated with novel variants in the clathrin heavy chain encoding CLTC gene and brief review of the literature
11天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
1个月前
已完结
The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China
1个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
2个月前
已完结
Identification of a novel missense mutation in Wilson's disease gene
2个月前
已关闭
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
2个月前
已完结
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy
3个月前
已完结
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction
3个月前
已完结
Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs
3个月前
已完结
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