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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

[Image: see text]

Detalles Bibliográficos
Autores principales: Thuresson, Ann‐Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392105/
https://www.ncbi.nlm.nih.gov/pubmed/30525197
http://dx.doi.org/10.1111/cge.13470
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author Thuresson, Ann‐Charlotte
Soussi Zander, Cecilia
Zhao, Jin J.
Halvardson, Jonatan
Maqbool, Khurram
Månsson, Else
Stenninger, Eric
Holmlund, Ulrika
Öhrner, Ylva
Feuk, Lars
author_facet Thuresson, Ann‐Charlotte
Soussi Zander, Cecilia
Zhao, Jin J.
Halvardson, Jonatan
Maqbool, Khurram
Månsson, Else
Stenninger, Eric
Holmlund, Ulrika
Öhrner, Ylva
Feuk, Lars
author_sort Thuresson, Ann‐Charlotte
collection PubMed
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spelling pubmed-63921052019-03-07 Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability Thuresson, Ann‐Charlotte Soussi Zander, Cecilia Zhao, Jin J. Halvardson, Jonatan Maqbool, Khurram Månsson, Else Stenninger, Eric Holmlund, Ulrika Öhrner, Ylva Feuk, Lars Clin Genet Letters to the Editor [Image: see text] Blackwell Publishing Ltd 2018-12-07 2019-03 /pmc/articles/PMC6392105/ /pubmed/30525197 http://dx.doi.org/10.1111/cge.13470 Text en © 2018 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letters to the Editor
Thuresson, Ann‐Charlotte
Soussi Zander, Cecilia
Zhao, Jin J.
Halvardson, Jonatan
Maqbool, Khurram
Månsson, Else
Stenninger, Eric
Holmlund, Ulrika
Öhrner, Ylva
Feuk, Lars
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
title Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
title_full Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
title_fullStr Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
title_full_unstemmed Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
title_short Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
title_sort whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
topic Letters to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392105/
https://www.ncbi.nlm.nih.gov/pubmed/30525197
http://dx.doi.org/10.1111/cge.13470
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