Lv1
70 积分 2024-04-25 加入
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant inFGD1and management recommendations
8天前
已完结
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
1个月前
已完结
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia
1个月前
已完结
Recurrence Risks in Congenital Anomalies: A Comprehensive Guide for Parental Counseling
1个月前
已完结
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation inMYO18B
3个月前
已完结
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects
3个月前
已完结
Reseach progress of electroencephalogram features of Angelman syndrome
6个月前
已完结
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
8个月前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
8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
8个月前
已完结
Axonal Regeneration in the Central Nervous System
8个月前
已采纳
Anticoagulation Use and Endovascular Thrombectomy in Patients with Large Core Stroke: A Secondary Analysis of the SELECT2 Trial
8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
11个月前
已采纳
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