Lv11
10 积分 2025-11-20 加入
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
2小时前
待确认
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound
2个月前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
3个月前
已完结
The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication
3个月前
已完结
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder
4个月前
已完结
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
5个月前
已完结
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification
5个月前
已完结
Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome
5个月前
已完结
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