Genetic causes of the skeletal system abnormalities diagnosed by prenatal sonography with the use of exome sequencing: single institution experience-Reference-Cited by-同舟云学术

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Genetic causes of the skeletal system abnormalities diagnosed by prenatal sonography with the use of exome sequencing: single institution experience

Published:2021-07 Issue: Volume: Page:
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound Obstet Gynecol

Author:

Kucińska‐Chahwan A.¹^ORCID,Roszkowski T.¹,Nowakowska B.²,Geremek M.²,Paczkowska M.²,Bijok J.¹^ORCID,Massalska D.¹^ORCID

Affiliation:

1. Clinic of Gynecology Oncology and Obstetrics The Medical Centre of Postgraduate Education Warsaw Poland

2. Department of Medical Genetics Institute of Mother and Child Warsaw Poland

Publisher

Wiley

Subject

Obstetrics and Gynecology,Radiology, Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.23722

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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. Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH;Frontiers in Genetics;2024-06-17

3. Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China;Frontiers in Genetics;2024-01-22

4. Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia;Pediatric Radiology;2023-12-05

5. Diagnostic yield of exome sequencing in fetuses with skeletal dysplasia: systematic review and meta-analysis;2023-06-22

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