Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rubayte Rahman"'
Autor:
Maria Isabel Bahamonde, Selma Angèlica Serra, Oliver Drechsel, Rubayte Rahman, Anna Marcé-Grau, Marta Prieto, Stephan Ossowski, Alfons Macaya, José M Fernández-Fernández
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0146035 (2015)
Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, result in heterogeneous human neurological disorders, including familial and sporadic hemiplegic migraine along with episodic and progressive forms of at
Externí odkaz:
https://doaj.org/article/86c62683d5e547b387afc1ff9cb87119
Autor:
Bart Charbon, Ivo F.A.C. Fokkema, Ronald H. Lekanne Deprez, Jeroen F.J. Laros, Claudia A. L. Ruivenkamp, Bart de Koning, Richard J. Sinke, Morris A. Swertz, Gert Thijs, Quinten Waisfisz, Nienke Wieskamp, Rolph Pfundt, Marielle E. van Gijn, Johan T. den Dunnen, Isaac J. Nijman, Kristin M. Abbott, R. Moritz, Mariska Slofstra, Jasper J. Saris, Rubayte Rahman, Kasper Joeri van der Velde, Marinus J. Blok, Maartje J Vogel
Publikováno v:
Human Mutation, 40, 2230-2238
Fokkema, I F A C, van der Velde, K J, Slofstra, M K, Ruivenkamp, C A L, Vogel, M J, Pfundt, R, Blok, M J, Lekanne Deprez, R H, Waisfisz, Q, Abbott, K M, Sinke, R J, Rahman, R, Nijman, I J, de Koning, B, Thijs, G, Wieskamp, N, Moritz, R J G, Charbon, B, Saris, J J, den Dunnen, J T, Laros, J F J, Swertz, M A & van Gijn, M E 2019, ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ', Human Mutation, vol. 40, no. 12, pp. 2230-2238 . https://doi.org/10.1002/humu.23896
Human Mutation, 40(12), 2230-2238. Wiley
Human Mutation
Human Mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human Mutation, 40(12), 2230. Wiley-Liss Inc.
Human Mutation, 40(12), 2230-2238. WILEY
Human Mutation, 40, 12, pp. 2230-2238
Fokkema, I F A C, van der Velde, K J, Slofstra, M K, Ruivenkamp, C A L, Vogel, M J, Pfundt, R, Blok, M J, Lekanne Deprez, R H, Waisfisz, Q, Abbott, K M, Sinke, R J, Rahman, R, Nijman, I J, de Koning, B, Thijs, G, Wieskamp, N, Moritz, R J G, Charbon, B, Saris, J J, den Dunnen, J T, Laros, J F J, Swertz, M A & van Gijn, M E 2019, ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ', Human Mutation, vol. 40, no. 12, pp. 2230-2238 . https://doi.org/10.1002/humu.23896
Human Mutation, 40(12), 2230-2238. Wiley
Human Mutation
Human Mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human Mutation, 40(12), 2230. Wiley-Liss Inc.
Human Mutation, 40(12), 2230-2238. WILEY
Human Mutation, 40, 12, pp. 2230-2238
Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next‐generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on the standard 5‐tier scal
Publikováno v:
Scientific Reports
Although large-scale efforts for molecular profiling of cancer samples provide multiple data types for many samples, most approaches for finding candidate cancer genes rely on somatic mutations and DNA copy number only. We present a new method, OncoS
Autor:
Rubayte Rahman, Daniel J. Vis, Patricia Jaaks, L. Wessels, Andrew Barthorpe, Howard Lightfoot, Magali Michaut, Nanne Aben, Mathew J. Garnett, D. Van der Meer
Publikováno v:
ESMO Open. 3:A236
Introduction Tailored, genotype-driven therapies are the future for treatment of heterogeneous cancers like breast cancer. However, despite their high therapeutic index, targeted agents often have limited success in single agent treatment setups due
Autor:
Oliver Drechsel, Raquel Rabionet, Mattia Bosio, Xavier Estivill, Stephan Ossowski, Laura Domenech Salgado, Roger Colobran, Jean-Jacques Schott, Alfons Macaya, Francina Munell, Daniela Bezdan, Francesc Muyas, Hyun‐Gyu Hor, Rubayte Rahman
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
instname
Human Mutation
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
instname
Human Mutation
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Spanish Ministry of Economy and Competitiveness; "la Caixa" Foundation; 'Centro de Excelencia Severo Ochoa 2013- 2017; European Union - H2020 research and innovation programme, Grant/Award Number: 635290 - PanCanRisk; CERCA Programme - Generalitat de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e13ad8f7793e944001f9bed1a249a34
http://hdl.handle.net/10230/42370
http://hdl.handle.net/10230/42370