Neurologic Features with Pathogenic Copy Number Variants

Investigators from Children’s Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].

Detalles Bibliográficos
Autor principal: Coryell, Jason
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2020
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747500/
https://www.ncbi.nlm.nih.gov/pubmed/33354102
http://dx.doi.org/10.15844/pedneurbriefs-34-20
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author Coryell, Jason
author_facet Coryell, Jason
author_sort Coryell, Jason
collection PubMed
description Investigators from Children’s Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].
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spelling pubmed-77475002020-12-21 Neurologic Features with Pathogenic Copy Number Variants Coryell, Jason Pediatr Neurol Briefs Genetic Disorders Investigators from Children’s Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1]. Pediatric Neurology Briefs Publishers 2020-12-18 /pmc/articles/PMC7747500/ /pubmed/33354102 http://dx.doi.org/10.15844/pedneurbriefs-34-20 Text en Copyright: © 2020 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Disorders
Coryell, Jason
Neurologic Features with Pathogenic Copy Number Variants
title Neurologic Features with Pathogenic Copy Number Variants
title_full Neurologic Features with Pathogenic Copy Number Variants
title_fullStr Neurologic Features with Pathogenic Copy Number Variants
title_full_unstemmed Neurologic Features with Pathogenic Copy Number Variants
title_short Neurologic Features with Pathogenic Copy Number Variants
title_sort neurologic features with pathogenic copy number variants
topic Genetic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747500/
https://www.ncbi.nlm.nih.gov/pubmed/33354102
http://dx.doi.org/10.15844/pedneurbriefs-34-20
work_keys_str_mv AT coryelljason neurologicfeatureswithpathogeniccopynumbervariants

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