Lv4
610 积分 2025-05-27 加入
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
9天前
已完结
The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
14天前
已关闭
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
15天前
已完结
[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]
16天前
已完结
A Noonan‐like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia
17天前
已完结
Non invasive prenatal testing (NIPT) for common aneuploidies and beyond
21天前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
1个月前
已完结
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants
2个月前
已完结
Lethal Skeletal Dysplasia in Fetus With Novel COL1A1 Variant
2个月前
已完结
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