Αποτελέσματα αναζήτησης - Isaäc J. Nijman
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Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries από Michal Mokrý, Harma Feitsma, Isaäc J. Nijman, Ewart de Bruijn, P. J. van der Zaag, Victor Guryev, Edwin Cuppen
Έκδοση 2010Artigo -
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Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia από Maarten P.G. Massink, Marijn Créton, Francesca Spanevello, Willem Fennis, Marco S. Cune, Sanne M. C. Savelberg, Isaäc J. Nijman, Madelon M. Maurice, Marie‐José H. van den Boogaard, Gijs van Haaften
Έκδοση 2015Artigo -
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Hybridization of banteng (Bos javanicus) and zebu (Bos indicus) revealed by mitochondrial DNA, satellite DNA, AFLP and microsatellites από Isaäc J. Nijman, Myrthe Otsen, Edward L.C. Verkaar, C de Ruijter, Eline E. Hanekamp, Joel W. Ochieng, Samer Shamshad, J.E.O. Rege, Olivier Hanotte, Martine Barwegen, T Sulawati, Johannes A. Lenstra
Έκδοση 2003Artigo -
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Pyrosequencing-based comparative genome analysis of the nosocomial pathogen Enterococcus faecium and identification of a large transferable pathogenicity island από Willem van Schaik, Janetta Top, David R. Riley, Jos Boekhorst, Joyce E. P. Vrijenhoek, Claudia Schapendonk, Antoni P. A. Hendrickx, Isaäc J. Nijman, Marc JM Bonten, Hervé Tettelin, Rob J. L. Willems
Έκδοση 2010Artigo -
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Primary Colorectal Cancers and Their Subsequent Hepatic Metastases Are Genetically Different: Implications for Selection of Patients for Targeted Treatment από Joost S.P. Vermaat, Isaäc J. Nijman, Marco J. Koudijs, Frank L. Gerritse, Stefan Scherer, Michal Mokrý, Wijnand Roessingh, Nico Lansu, Ewart de Bruijn, Richard van Hillegersberg, P. J. van Diest, Edwin Cuppen, Emile E. Voest
Έκδοση 2011Artigo -
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Joubert syndrome: genotyping a Northern European patient cohort από Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, Karen Duran, Carolien G. F. de Kovel, Mark J. van Roosmalen, Magdaléna Harakaľová, Isaäc J. Nijman, Wigard P. Kloosterman, Rachel H. Giles, Nine Knoers, Gijs van Haaften
Έκδοση 2015Artigo -
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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome από Heleen D. de Koning, Mariëlle van Gijn, Monique Stoffels, Johanna Jongekrijg, Patrick L.J.M. Zeeuwen, Martin Elferink, Isaäc J. Nijman, Patrick A.M. Jansen, Kornelia Neveling, Jos W.M. van der Meer, Joost Schalkwijk, Anna Simon
Έκδοση 2014Carta -
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Afadin loss induces breast cancer metastasis through destabilisation of E‐cadherin to F‐actin linkage από Max A. K. Rätze, Lotte Enserink, Noboru Ishiyama, Sven van Kempen, Christina H. J. Veltman, Isaäc J. Nijman, Wisse E. Haakma, Carlos Caldas, René Bernards, P. J. van Diest, Matthias Christgen, Thijs Koorman, Patrick W.B. Derksen
Έκδοση 2025Artigo -
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Dual Origins of Dairy Cattle Farming – Evidence from a Comprehensive Survey of European Y-Chromosomal Variation από Ceiridwen J. Edwards, Catarina Ginja, Juha Kantanen, Lucía Pérez-Pardal, Anne Tresset, Frauke Stock, Katayoun Moazami-Goudarzi, L.T. Gama, M. C. T. Penedo, Daniel G. Bradley, Johannes A. Lenstra, Isaäc J. Nijman, Mathieu Gautier, Dénis Laloë, Ahmad Oulmouden, Hubert H. Levéziel
Έκδοση 2011Artigo -
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Genome-Wide Pattern of TCF7L2/TCF4 Chromatin Occupancy in Colorectal Cancer Cells από Pantelis Hatzis, Laurens G. van der Flier, Marc A. van Driel, Victor Guryev, Fiona Nielsen, Sergei Denissov, Isaäc J. Nijman, Jan Köster, Evan E. Santo, Willem Welboren, Rogier Versteeg, Edwin Cuppen, Marc van de Wetering, Hans Clevers, Hendrik G. Stunnenberg
Έκδοση 2008Artigo -
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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy από Carolien G. F. de Kovel, Miriam H. Meisler, Eva H. Brilstra, Frédérique M.C. van Berkestijn, Ruben van ‘t Slot, Stef van Lieshout, Isaäc J. Nijman, Janelle E. O’Brien, Michael F. Hammer, Mark Estación, Stephen G. Waxman, Sulayman D. Dib‐Hajj, Bobby P.C. Koeleman
Έκδοση 2014Artigo -
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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer από Wigard P. Kloosterman, Marlous Hoogstraat, Oscar Paling, Masoumeh Tavakoli‐Yaraki, Ivo Renkens, Joost S.P. Vermaat, Markus J. van Roosmalen, Stef van Lieshout, Isaäc J. Nijman, Wijnand Roessingh, Ruben van ‘t Slot, José van de Belt, Victor Guryev, Marco J. Koudijs, Emile E. Voest, Edwin Cuppen
Έκδοση 2011Artigo -
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Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity από Dragana Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju Mehta, Magdaléna Harakaľová, Karen Duran, Sanne M. C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst
Έκδοση 2016Artigo -
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A systematic genome-wide analysis of zebrafish protein-coding gene function από Ross Kettleborough, Elisabeth M. Busch‐Nentwich, Steven Harvey, Christopher M. Dooley, Ewart de Bruijn, Fredericus J. M. van Eeden, Ian M. Sealy, Richard White, Colin Herd, Isaäc J. Nijman, Fruzsina Fényes, Selina Mehroke, Catherine M. Scahill, Richard J. Gibbons, Neha Wali, Samantha Carruthers, Amanda Hall, Jennifer Yen, Edwin Cuppen, Derek L. Stemple
Έκδοση 2013Artigo -
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Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer από Marlous Hoogstraat, Mirjam S. de Pagter, Geert A. Cirkel, Markus J. van Roosmalen, Timothy T. Harkins, Karen Duran, Jennifer Kreeftmeijer, Ivo Renkens, Petronella O. Witteveen, Clarence Lee, Isaäc J. Nijman, Tanisha Guy, Ruben van ‘t Slot, Trudy N. Jonges, Martijn P. Lolkema, Marco J. Koudijs, Ronald P. Zweemer, Emile E. Voest, Edwin Cuppen, Wigard P. Kloosterman
Έκδοση 2013Artigo -
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Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes από Iris Lange, Marco J. Koudijs, Ruben van ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Lisette J. J. M. van Gemert, Flip Mulder, Ellen C. Carbo, Marjan J. A. van Kempen, Nienke E. Verbeek, Isaäc J. Nijman, Robert F. Ernst, Sanne M. C. Savelberg, Nine Knoers, Eva H. Brilstra, Bobby P.C. Koeleman
Έκδοση 2018Artigo -
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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded... από Wendy W.J. de Leng, Christa G. Gadellaa‐van Hooijdonk, Françoise A. S. Barendregt-Smouter, Marco J. Koudijs, Isaäc J. Nijman, John W. J. Hinrichs, Edwin Cuppen, Stef van Lieshout, Robert D. Loberg, Maja J.A. de Jonge, Emile E. Voest, Roel A. de Weger, Neeltje Steeghs, Marlies H.G. Langenberg, Stefan Sleijfer, Stefan M. Willems, Martijn P. Lolkema
Έκδοση 2016Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Gene
Medicine
Genome
Computational biology
Cancer research
Mutation
Cancer
Genotype
Population
Single-nucleotide polymorphism
Allele
Bioinformatics
Exome sequencing
Phenotype
Computer science
Demography
Ecology
Internal medicine
Sociology
Amplified fragment length polymorphism
Candidate gene
Colorectal cancer
DNA
DNA sequencing
Epilepsy
Evolutionary biology
Exome
Genetic diversity