Cargando…
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
[Image: see text]
Autores principales: | , , , , , , , , , |
---|---|
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 |
_version_ | 1783398412162433024 |
---|---|
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 |
description | [Image: see text] |
format | Online Article Text |
id | pubmed-6392105 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Blackwell Publishing Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT thuressonanncharlotte wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT soussizandercecilia wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT zhaojinj wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT halvardsonjonatan wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT maqboolkhurram wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT manssonelse wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT stenningereric wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT holmlundulrika wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT ohrnerylva wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability AT feuklars wholegenomesequencingofconsanguineousfamiliesrevealsnovelpathogenicvariantsinintellectualdisability |