Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Eline J H, van Hugte"'
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Akademický článek
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment
Autor: Rudrarup Bhattacharjee, Lachlan A. Jolly, Mark A. Corbett, Ing Chee Wee, Sushma R. Rao, Alison E. Gardner, Tarin Ritchie, Eline J. H. van Hugte, Ummi Ciptasari, Sandra Piltz, Jacqueline E. Noll, Nazzmer Nazri, Clare L. van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth Baynam, Lyndsey E. Collins-Praino, Marten F. Snel, Nael Nadif Kasri, Kim M. Hemsley, Paul Q. Thomas, Raman Kumar, Jozef Gecz
Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype.
Externí odkaz: https://doaj.org/article/f655e25df84a4da1addb5bf08b495565
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4
NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
Autor: Wybo Dondorp, Anne de Boer, Lidewij Henneman, Eva Pajkrt, Eline J. H. van Hugte, Rachèl V. van Schendel, Augusta M. A. Lachmeijer, Danielle R.M. Timmermans
Publikováno v: Prenatal Diagnosis. 35:598-604
Objective The aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions. Methods An online questionnaire available on the Dutch pregnancy f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae73650679ef10fa27151f1ea16821ce
https://doi.org/10.1002/pd.4579
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5
NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
Autor: Rachèl V, van Schendel, Wybo J, Dondorp, Danielle R M, Timmermans, Eline J H, van Hugte, Anne, de Boer, Eva, Pajkrt, Augusta M A, Lachmeijer, Lidewij, Henneman
Publikováno v: Prenatal diagnosis. 35(6)
The aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions.An online questionnaire available on the Dutch pregnancy fair website was com
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae5d7e979e0392031b74019d9c8433ec
https://pubmed.ncbi.nlm.nih.gov/25693726
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