Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eline J H, van Hugte"'
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
Autor:
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri
Publikováno v:
Human Molecular Genetics, 32, 14, pp. 2373-2385
Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and homeostatic plasticity in human-induced pluripotent stem cell-derived
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd3b86c716e243a79dec03933a9e66
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37986e794cabc13fc16ce8b08f99df28
https://doi.org/10.1111/epi.17651
https://doi.org/10.1111/epi.17651
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
https://doi.org/10.1002/pd.4579
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
https://pubmed.ncbi.nlm.nih.gov/25693726