Zobrazeno 1 - 10
of 26
pro vyhledávání: '"te Water Naude, Johann"'
Autor:
Kirby, Amanda, Williams, Natalie, Koelewijn, Loes, Brindley, Lisa M., Muthukumaraswamy, Suresh D., te Water Naudé, Johann, Thomas, Marie, Gibbon, Frances, Singh, Krish D., Hamandi, Khalid
Publikováno v:
In Epilepsy & Behavior July 2017 72:122-126
Autor:
Brindley, Lisa M., Koelewijn, Loes, Kirby, Amanda, Williams, Natalie, Thomas, Marie, te Water-Naudé, Johann, Gibbon, Frances, Muthukumaraswamy, Suresh, Singh, Krish D., Hamandi, Khalid
Publikováno v:
In Clinical Neurophysiology February 2016 127(2):1147-1156
Autor:
Fry, Andrew E., Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell, Chung, Seo-Kyung
Publikováno v:
In The American Journal of Human Genetics 7 January 2021 108(1):176-185
Autor:
Angel, Ashikov, Nurulamin, Abu Bakar, Xiao-Yan, Wen, Marco, Niemeijer, Glentino, Rodrigues Pinto Osorio, Koroboshka, Brand-Arzamendi, Linda, Hasadsri, Hana, Hansikova, Kimiyo, Raymond, Dorothée, Vicogne, Nina, Ondruskova, Marleen E H, Simon, Rolph, Pfundt, Sharita, Timal, Roel, Beumers, Christophe, Biot, Roel, Smeets, Marjan, Kersten, Karin, Huijben, Peter T A, Linders, Geert, van den Bogaart, Sacha A F T, van Hijum, Richard, Rodenburg, Lambertus P, van den Heuvel, Francjan, van Spronsen, Tomas, Honzik, Francois, Foulquier, Monique, van Scherpenzeel, Dirk J, Lefeber, Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, van Hasselt, Peter, van de Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Brocke Holmefjord, Katja, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Te Water Naude, Johann
Publikováno v:
CDG group 2018, ' Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation ', Human Molecular Genetics, vol. 27, no. 17, pp. 3029-3045 . https://doi.org/10.1093/hmg/ddy213
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in sin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e709730c784b1fbb4d2aab2a8939fd5a
https://research.rug.nl/en/publications/f2f95986-9727-4cad-968f-2627eb4a6a0e
https://research.rug.nl/en/publications/f2f95986-9727-4cad-968f-2627eb4a6a0e
Akademický článek
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Autor:
Fry, Andrew E., Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney, Chung, Seo-Kyung, Rees, Mark I., Holmans, Peter, Owen, Michael J., Kirov, George, Pilz, Daniela T., Kerr, Michael P.
Publikováno v:
BMC Medical Genetics
Background Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy. Methods We ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1f71af39524f666205abfbb5f7173636
https://pubmed.ncbi.nlm.nih.gov/27113213
https://pubmed.ncbi.nlm.nih.gov/27113213
Autor:
Mullen, Stephen, Roberts, Zöe, Tuthill, David, Owens, Laura, Te Water Naude, Johann, Maguire, Sabine
Publikováno v:
Pediatric Emergency Care; 20240101, Issue: Preprints
Autor:
Fry, Andrew E., Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya
Publikováno v:
BMC Medical Genetics; 4/26/2016, Vol. 17, p1-9, 9p
Autor:
Mullen, Stephen, Roberts, Zöe, Tuthill, David, Owens, Laura, Te Water Naude, Johann, Maguire, Sabine
Publikováno v:
Pediatric Emergency Care; Apr2021, Vol. 37 Issue 4, pe210-e211, 2p