Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses-Reference-Cited by-同舟云学术

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Published:2020-11-11 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Bukowska-Olech Ewelina,Materna-Kiryluk Anna,Walczak-Sztulpa Joanna,Popiel Delfina,Badura-Stronka Magdalena,Koczyk Grzegorz,Dawidziuk Adam,Jamsheer Aleksander

Funder

Narodowym Centrum Nauki

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference37 articles.

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5. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.;Bukowska-Olech;Sci. Rep.,2020

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1. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes;Frontiers in Pediatrics;2023-08-17

2. Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population;Molecular Genetics & Genomic Medicine;2023-04-30

3. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?;European Journal of Medical Genetics;2022-05

4. Molecular mechanisms of hearing loss in Nager syndrome;Developmental Biology;2021-08

5. Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene;Orphanet Journal of Rare Diseases;2021-06-26