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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174030/ https://www.ncbi.nlm.nih.gov/pubmed/32227164 http://dx.doi.org/10.1093/brain/awaa070 |
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| author | Scala, Marcello Mojarrad, Majid Riazuddin, Saima Brigatti, Karlla W Ammous, Zineb Cohen, Julie S Hosny, Heba Usmani, Muhammad A Shahzad, Mohsin Riazuddin, Sheikh Stanley, Valentina Eslahi, Atiye Person, Richard E Elbendary, Hasnaa M Comi, Anne M Poskitt, Laura Salpietro, Vincenzo Genomics, Queen Square Rosenfeld, Jill A Williams, Katie B Marafi, Dana Xia, Fan Biderman Waberski, Marta Zaki, Maha S Gleeson, Joseph Puffenberger, Erik Houlden, Henry Maroofian, Reza |
| author_facet | Scala, Marcello Mojarrad, Majid Riazuddin, Saima Brigatti, Karlla W Ammous, Zineb Cohen, Julie S Hosny, Heba Usmani, Muhammad A Shahzad, Mohsin Riazuddin, Sheikh Stanley, Valentina Eslahi, Atiye Person, Richard E Elbendary, Hasnaa M Comi, Anne M Poskitt, Laura Salpietro, Vincenzo Genomics, Queen Square Rosenfeld, Jill A Williams, Katie B Marafi, Dana Xia, Fan Biderman Waberski, Marta Zaki, Maha S Gleeson, Joseph Puffenberger, Erik Houlden, Henry Maroofian, Reza |
| author_sort | Scala, Marcello |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7174030 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Oxford University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-71740302020-04-27 RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability Scala, Marcello Mojarrad, Majid Riazuddin, Saima Brigatti, Karlla W Ammous, Zineb Cohen, Julie S Hosny, Heba Usmani, Muhammad A Shahzad, Mohsin Riazuddin, Sheikh Stanley, Valentina Eslahi, Atiye Person, Richard E Elbendary, Hasnaa M Comi, Anne M Poskitt, Laura Salpietro, Vincenzo Genomics, Queen Square Rosenfeld, Jill A Williams, Katie B Marafi, Dana Xia, Fan Biderman Waberski, Marta Zaki, Maha S Gleeson, Joseph Puffenberger, Erik Houlden, Henry Maroofian, Reza Brain Letters to the Editor Oxford University Press 2020-04 2020-03-30 /pmc/articles/PMC7174030/ /pubmed/32227164 http://dx.doi.org/10.1093/brain/awaa070 Text en © The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letters to the Editor Scala, Marcello Mojarrad, Majid Riazuddin, Saima Brigatti, Karlla W Ammous, Zineb Cohen, Julie S Hosny, Heba Usmani, Muhammad A Shahzad, Mohsin Riazuddin, Sheikh Stanley, Valentina Eslahi, Atiye Person, Richard E Elbendary, Hasnaa M Comi, Anne M Poskitt, Laura Salpietro, Vincenzo Genomics, Queen Square Rosenfeld, Jill A Williams, Katie B Marafi, Dana Xia, Fan Biderman Waberski, Marta Zaki, Maha S Gleeson, Joseph Puffenberger, Erik Houlden, Henry Maroofian, Reza RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| title |
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| title_full |
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| title_fullStr |
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| title_full_unstemmed |
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| title_short |
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| title_sort | rsrc1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability |
| topic | Letters to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174030/ https://www.ncbi.nlm.nih.gov/pubmed/32227164 http://dx.doi.org/10.1093/brain/awaa070 |
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