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20 积分 2025-11-20 加入
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
1个月前
已完结
Basal cell carcinoma and seborrheic keratosis collision in a child: coincidence or pathogenic relationship?
1个月前
已完结
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
2个月前
已完结
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound
4个月前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
5个月前
已完结
The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication
5个月前
已完结
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder
6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
7个月前
已完结
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification
7个月前
已完结
Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome
7个月前
已完结
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