Resultados da pesquisa - Maartje J. Vogel
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Human heterochromatin proteins form large domains containing KRAB-ZNF genes Por Maartje J. Vogel, Lars Guelen, Elzo de Wit, Daniel Peric Hupkes, Martin Lodén, Wendy Talhout, Marike Feenstra, Ben Abbas, Anne-Kathrin Classen, Bas van Steensel
Publicado em 2006Artigo -
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories Por Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep
Publicado em 2013Revisão -
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Por Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, E. Gómez, Johanna Hadler, Susan Hiraki, Megan Holdren, Claude Houdayer, Kathleen S. Hruska, Paul A. James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen R. Mensenkamp, Álvaro N.A. Monteiro, Vaishnavi Nathan, Robert O’Connor, Inge Søkilde Pedersen, Tina Pesaran, Paolo Radice, Gunnar Schmidt, Melissa C. Southey, Sean V. Tavtigian, Bryony A. Thompson, Amanda E. Toland, Clare Turnbull, Maartje J. Vogel, Jamie Weyandt, George A. R. Wiggins, Lauren Zec, Fergus J. Couch, Logan C. Walker, Maaike P.G. Vreeswijk, David E. Goldgar, Amanda B. Spurdle
Publicado em 2024Artigo -
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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects Por Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs W.E. Santen, Isaäc J. Nijman, Derek Butler, Godelieve R.F. Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky Halley, Mirjam C. G. N. van den Hout, Steven van Hove, Lennart Johansson, Jan D.H. Jongbloed, Rick Kamps, Christel Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel M.A.M. Mannens, Olaf R.F. Mook, Marcel Nelen, M.C. Ploem, Marco Rijnen, Jasper J. Saris, Richard J. Sinke, Erik A. Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje J. Vogel, Quinten Waisfisz, Janneke Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred F. J. van IJcken, Johan T. den Dunnen, Joris A. Veltman, Raoul C. M. Hennekam, Edwin Cuppen
Publicado em 2015Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Gene
Genetics
Computational biology
Genome
Bioinformatics
Computer science
DNA sequencing
Gene expression
Genetic testing
Medicine
Molecular diagnostics
Alternative medicine
Best practice
Chromatin
Chromatin immunoprecipitation
Chromosome
Clinical Practice
Constitutive heterochromatin
DNA
DNA methylation
DNA microarray
Data science
Diagnostic test
Economics
Emergency medicine
Exome
Exome sequencing
Family medicine
Fusion protein