Hasil Pencarian - Jayne Y Hehir‐Kwa

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  1. 1
    Editorial: Long-read sequencing—Pitfalls, benefits and success stories

    Editorial: Long-read sequencing—Pitfalls, benefits and success stories oleh Inken Wohlers, Shilpa Garg, Shilpa Garg, Jayne Y. Hehir-Kwa

    Diterbitkan 2023-01-01
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  2. 2
    Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology

    Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology oleh Ianthe A. E. M. van Belzen, Alexander Schönhuth, Patrick Kemmeren, Jayne Y. Hehir-Kwa

    Diterbitkan 2021-03-01
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  3. 3
    Forging links between human mental retardation-associated CNVs and mouse gene knockout models.

    Forging links between human mental retardation-associated CNVs and mouse gene knockout models. oleh Caleb Webber, Jayne Y Hehir-Kwa, Duc-Quang Nguyen, Bert B A de Vries, Joris A Veltman, Chris P Ponting

    Diterbitkan 2009-06-01
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  4. 4
    Accurate distinction of pathogenic from benign CNVs in mental retardation.

    Accurate distinction of pathogenic from benign CNVs in mental retardation. oleh Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman

    Diterbitkan 2010-04-01
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  5. 5
    Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

    Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing oleh Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa

    Diterbitkan 2014-12-01
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  6. 6
    Trecode: A FAIR Eco-System for the Analysis and Archiving of Omics Data in a Combined Diagnostic and Research Setting

    Trecode: A FAIR Eco-System for the Analysis and Archiving of Omics Data in a Combined Diagnostic and Research Setting oleh Hindrik HD Kerstens, Jayne Y Hehir-Kwa, Ellen van de Geer, Chris van Run, Shashi Badloe, Alex Janse, John Baker-Hernandez, Sam de Vos, Douwe van der Leest, Eugène TP Verwiel, Bastiaan BJ Tops, Patrick Kemmeren

    Diterbitkan 2022-12-01
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  7. 7
    Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience

    Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience oleh Judith M. Boer, Uri Ilan, Aurélie Boeree, Karin P. S. Langenberg, Jan Koster, Marco J. Koudijs, Jayne Y. Hehir‐Kwa, Stefan Nierkens, Corinne Rossi, Jan J. Molenaar, Bianca F. Goemans, Monique L. denBoer, C. Michel Zwaan

    Diterbitkan 2024-07-01
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  8. 8
    Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS

    Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS oleh Ianthe A. E. M. van Belzen, Casey Cai, Marc van Tuil, Shashi Badloe, Eric Strengman, Alex Janse, Eugène T. P. Verwiel, Douwe F. M. van der Leest, Lennart Kester, Jan J. Molenaar, Jules Meijerink, Jarno Drost, Weng Chuan Peng, Hindrik H. D. Kerstens, Bastiaan B. J. Tops, Frank C. P. Holstege, Patrick Kemmeren, Jayne Y. Hehir-Kwa

    Diterbitkan 2023-07-01
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  9. 9
    A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

    A high-quality human reference panel reveals the complexity and distribution of genomic structural variants oleh Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman, Laurent C. Francioli, Jasmijn A. Baaijens, Louis J. Dijkstra, Abdel Abdellaoui, Vyacheslav Koval, Djie Tjwan Thung, René Wardenaar, Ivo Renkens, Bradley P. Coe, Patrick Deelen, Joep de Ligt, Eric-Wubbo Lameijer, Freerk van Dijk, Fereydoun Hormozdiari, The Genome of the Netherlands Consortium, André G. Uitterlinden, Cornelia M. van Duijn, Evan E. Eichler, Paul I. W. de Bakker, Morris A. Swertz, Cisca Wijmenga, Gert-Jan B. van Ommen, P. Eline Slagboom, Dorret I. Boomsma, Alexander Schönhuth, Kai Ye, Victor Guryev

    Diterbitkan 2016-10-01
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  10. 10
    Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes

    Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes oleh Michael T Meister, Marian J A Groot Koerkamp, Terezinha deSouza, Willemijn B Breunis, Ewa Frazer‐Mendelewska, Mariël Brok, Jeff DeMartino, Freek Manders, Camilla Calandrini, Hinri H D Kerstens, Alex Janse, M Emmy M Dolman, Selma Eising, Karin P S Langenberg, Marc vanTuil, Rutger R G Knops, Sheila Terwisscha vanScheltinga, Laura S Hiemcke‐Jiwa, Uta Flucke, Johannes H M Merks, Max M vanNoesel, Bastiaan B J Tops, Jayne Y Hehir‐Kwa, Patrick Kemmeren, Jan J Molenaar, Marc van deWetering, Ruben vanBoxtel, Jarno Drost, Frank C P Holstege

    Diterbitkan 2022-10-01
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  11. 11
    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies oleh Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

    Diterbitkan 2019-06-01
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  12. 12
    1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

    1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans oleh Ida E. Sønderby, Dennis van der Meer, Clara Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J. Armstrong, Manon Bernard, Nicholas B. Blackburn, John Blangero, Dorret I. Boomsma, Henry Brodaty, Rachel M. Brouwer, Robin Bülow, Rune Bøen, Wiepke Cahn, Vince D. Calhoun, Svenja Caspers, Christopher R. K. Ching, Sven Cichon, Simone Ciufolini, Benedicto Crespo-Facorro, Joanne E. Curran, Anders M. Dale, Shareefa Dalvie, Paola Dazzan, Eco J. C. de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Sylvane Desrivieres, Joanne L. Doherty, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Else Eising, Thomas Espeseth, Kim Fejgin, Simon E. Fisher, Tormod Fladby, Oleksandr Frei, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, Tian Ge, David C. Glahn, Hans J. Grabe, Nynke A. Groenewold, Ómar Gústafsson, Jan Haavik, Asta K. Haberg, Jeremy Hall, Ryota Hashimoto, Jayne Y. Hehir-Kwa, Derrek P. Hibar, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Avram J. Holmes, Georg Homuth, Jouke-Jan Hottenga, Hilleke E. Hulshoff Pol, Masashi Ikeda, Neda Jahanshad, Christiane Jockwitz, Stefan Johansson, Erik G. Jönsson, Niklas R. Jørgensen, Masataka Kikuchi, Emma E. M. Knowles, Kuldeep Kumar, Stephanie Le Hellard, Costin Leu, David E. J. Linden, Jingyu Liu, Arvid Lundervold, Astri Johansen Lundervold, Anne M. Maillard, Nicholas G. Martin, Sandra Martin-Brevet, Karen A. Mather, Samuel R. Mathias, Katie L. McMahon, Allan F. McRae, Sarah E. Medland, Andreas Meyer-Lindenberg, Torgeir Moberget, Claudia Modenato, Jennifer Monereo Sánchez, Derek W. Morris, Thomas W. Mühleisen, Robin M. Murray, Jacob Nielsen, Jan E. Nordvik, Lars Nyberg, Loes M. Olde Loohuis, Roel A. Ophoff, Michael J. Owen, Tomas Paus, Zdenka Pausova, Juan M. Peralta, G. Bruce Pike, Carlos Prieto, Erin B. Quinlan, Céline S. Reinbold, Tiago Reis Marques, James J. H. Rucker, Perminder S. Sachdev, Sigrid B. Sando, Peter R. Schofield, Andrew J. Schork, Gunter Schumann, Jean Shin, Elena Shumskaya, Ana I. Silva, Sanjay M. Sisodiya, Vidar M. Steen, Dan J. Stein, Lachlan T. Strike, Ikuo K. Suzuki, Christian K. Tamnes, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas-Gutiérrez, Anne Uhlmann, Magnus O. Ulfarsson, Dennis van ‘t Ent, Marianne B. M. van den Bree, Pierre Vanderhaeghen, Evangelos Vassos, Wei Wen, Katharina Wittfeld, Margaret J. Wright, Ingrid Agartz, Srdjan Djurovic, Lars T. Westlye, Hreinn Stefansson, Kari Stefansson, Sébastien Jacquemont, Paul M. Thompson, Ole A. Andreassen, for the ENIGMA-CNV working group

    Diterbitkan 2021-03-01
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