Application of whole exome sequencing in fetal cases with skeletal abnormalities
Author:
Publisher
Elsevier BV
Subject
Multidisciplinary
Reference31 articles.
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1. A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature;American Journal of Perinatology Reports;2024-07
2. Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China;Frontiers in Genetics;2024-01-22
3. Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta;Fetal Diagnosis and Therapy;2024
4. Diagnosis of thanatophoric dysplasia using clinical exome screening;Česká gynekologie;2023-10-30
5. Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges;Diagnostics;2023-02-23
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