Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Peter E M Taschner"'
Autor:
Mihai, Lefter, Jonathan K, Vis, Martijn, Vermaat, Johan T, den Dunnen, Peter E M, Taschner, Jeroen F J, Laros
Publikováno v:
Bioinformatics
Motivation Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6eb06323188238fa990bb5b38229a415
https://pubmed.ncbi.nlm.nih.gov/33538839
https://pubmed.ncbi.nlm.nih.gov/33538839
Autor:
Jean-Pierre Bayley, Ivonne van Minderhout, Pancras C W Hogendoorn, Cees J Cornelisse, Annemieke van der Wal, Frans A Prins, Luc Teppema, Albert Dahan, Peter Devilee, Peter E M Taschner
Publikováno v:
PLoS ONE, Vol 4, Iss 11, p e7987 (2009)
BACKGROUND: Mitochondrial succinate dehydrogenase (SDH) is a component of both the tricarboxylic acid cycle and the electron transport chain. Mutations of SDHD, the first protein of intermediary metabolism shown to be involved in tumorigenesis, lead
Externí odkaz:
https://doaj.org/article/22328ca339cf48aba1cce2c41c0a7126
Autor:
Bernard, Leroy, Mandy L, Ballinger, Fanny, Baran-Marszak, Gareth L, Bond, Antony, Braithwaite, Nicole, Concin, Lawrence A, Donehower, Wafik S, El-Deiry, Pierre, Fenaux, Gianluca, Gaidano, Anita, Langerød, Eva, Hellstrom-Lindberg, Richard, Iggo, Jacqueline, Lehmann-Che, Phuong L, Mai, David, Malkin, Ute M, Moll, Jeffrey N, Myers, Kim E, Nichols, Sarka, Pospisilova, Patricia, Ashton-Prolla, Davide, Rossi, Sharon A, Savage, Louise C, Strong, Patricia N, Tonin, Robert, Zeillinger, Thorsten, Zenz, Joseph F, Fraumeni, Peter E M, Taschner, Pierre, Hainaut, Thierry, Soussi
Publikováno v:
Cancer Res
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance and therapy. Genomic data from more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e12ed2d712fefd28caf178120e37195b
https://pubmed.ncbi.nlm.nih.gov/28254861
https://pubmed.ncbi.nlm.nih.gov/28254861
Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis
Autor:
Coriene E. Catsman-Berrevoets, Dick Lindhout, Peter E. M. Taschner, Martijn H. Breuning, Sjoerd G. van Duinen, Nanneke de Vos
Publikováno v:
American Journal of Medical Genetics. 57:338-343
Accurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0144711ff2e207be0fca52a9d02f4c2
https://doi.org/10.1002/ajmg.1320570247
https://doi.org/10.1002/ajmg.1320570247
Autor:
Albert, Dahan, Peter E M, Taschner, Jeroen C, Jansen, Andel, van der Mey, Luc J, Teppema, Cees J, Cornelisse
Publikováno v:
Advances in experimental medicine and biology. 551
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::16266496b1704d119f0d198f2a948653
https://pubmed.ncbi.nlm.nih.gov/15602946
https://pubmed.ncbi.nlm.nih.gov/15602946
Autor:
Raymonda, Romberg, Erik, Olofsen, Elise, Sarton, Jan, den Hartigh, Peter E M, Taschner, Albert, Dahan
Publikováno v:
Anesthesiology. 100(1)
Morphine-6-glucuronide (M6G) is a metabolite of morphine and a micro-opioid agonist. To quantify the potency and speed of onset-offset of M6G and explore putative sex dependency, the authors studied the pharmacokinetics and pharmacodynamics of M6G in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6214e20452a1ba7811c5e2157cfab49c
https://pubmed.ncbi.nlm.nih.gov/14695733
https://pubmed.ncbi.nlm.nih.gov/14695733
Publikováno v:
Laryngoscope; Jun2003, Vol. 113 Issue 6, p1055-1058, 4p
Autor:
Lefter, Mihai, Vis, Jonathan K, Vermaat, Martijn, Dunnen, Johan T den, Taschner, Peter E M, Laros, Jeroen F J
Publikováno v:
Bioinformatics; Sep2021, Vol. 37 Issue 18, p2811-2817, 7p
Autor:
Bruce, Marian C., Donnelly, Christl A., Alpers, Michael P., Galinski, Mary R., Barnwell, John W., Walliker, David, Day, Karen P.
Publikováno v:
Science. 2/4/2000, Vol. 287 Issue 5454, p548. 4p. 2 Graphs.
Autor:
Baysal, Bora E., Ferrell, Robert E., Willett-Brozick, Joan E., Lawrence, Elizabeth C., Myssiorek, David, Bosch, Anne, van der Mey, Andel, Taschner, Peter E. M., Rubinstein, Wendy S., Myers, Eugene N., Richard III, Charles W., Cornelisse, Cees J., Devilee, Peter, Devlin, B.
Publikováno v:
Science. 2/4/2000, Vol. 287 Issue 5454, p848. 4p. 3 Diagrams, 1 Graph.