Lv11
60 积分 2024-04-25 加入
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects
2小时前
求助中
Reseach progress of electroencephalogram features of Angelman syndrome
2个月前
已完结
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
4个月前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
4个月前
已完结
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review
4个月前
已完结
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
4个月前
已完结
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: A study of 156 consecutive patients
5个月前
已完结
Targeted serum proteome profiling reveals nicotinamide adenine dinucleotide phosphate (NADPH)-related biomarkers to discriminate linear IgA bullous disorder from dermatitis herpetiformis
5个月前
已完结
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease
6个月前
已完结
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis
6个月前
已完结
Axonal Regeneration in the Central Nervous System
4个月前
已采纳
Anticoagulation Use and Endovascular Thrombectomy in Patients with Large Core Stroke: A Secondary Analysis of the SELECT2 Trial
4个月前
已采纳
Procedural characteristics and cardiovascular outcomes in patients undergoing drug-coated balloon angioplasty for de novo lesions in large coronary arteries: an observational study
7个月前
已采纳
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