検索結果 - Bart de Koning

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  1. 1
    Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome

    Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome 著者: Mike Gerards, Rick Kamps, Jo van Oevelen, Iris Boesten, Eveline Jongen, Bart de Koning, H.R. Scholte, Isabel de Angst, Kees Schoonderwoerd, Abdelaziz Sefiani, Ilham Ratbi, Wouter Coppieters, Latifa Karim, I.F.M. de Coo, Bianca van den Bosch, Hubert J.M. Smeets

    出版事項 2013
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  2. 2
    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice 著者: Suzanne C.E.H. Sallevelt, Alexander P.A. Stegmann, Bart de Koning, Crool Velter, Anja Steyls, Melanie van Esch, Phillis Lakeman, Helger G. Yntema, Masoud Zamani Esteki, Christine de Die‐Smulders, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Aimée Paulussen

    出版事項 2021
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    Artigo
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  3. 3
    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause 著者: Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T.M. Hendrickx, Suzanne C.E.H. Sallevelt, Ralph W.H. Gottschalk, Chantal Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst‐Hofstee, Marjolein Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, I.F.M. de Coo, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets

    出版事項 2018
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  4. 4
    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data 著者: Ivo F.A.C. Fokkema, Kasper Joeri van der Velde, Mariska Slofstra, Claudia Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaäc J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, R. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den Dunnen, Jeroen F. J. Laros, Morris A. Swertz, Mariëlle van Gijn

    出版事項 2019
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  5. 5
    Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

    Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing 著者: A Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M.E.I. Hellebrekers, Servi J.C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M.J. van Uum, Juul Achten, Lars Hamers, Marjan Naghdi, Lisenka E.L.M. Vissers, Ron J T van Golde, Guido de Wert, Jos Dreesen, Christine de Die‐Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimée Paulussen, Masoud Zamani Esteki

    出版事項 2024
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  6. 6
    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 著者: Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben‐Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert K. Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez-de-la-Rúa-Franch, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P.M. Cremers, Susanne Roosing

    出版事項 2023
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  7. 7
    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects 著者: 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

    出版事項 2015
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  8. 8
    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands 著者: Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S. de Vries, Richard J. Sinke, Rolph Pfundt, Servi J.C. Stevens, Peter Andriessen, Richard A. van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P. de Boode, Wendy A.G. van Zelst–Stams, Geert Frederix, Lisenka E.L.M. Vissers, Lidewij Henneman, Mieke M. van Haelst, Erik A. Sistermans, Martina C. Cornel, Mala Misra‐Isrie, Marcel M.A.M. Mannens, Quinten Waisfisz, Johanna M. van Hagen, Alice S. Brooks, Tahsin Stefan Barakat, Elisabeth H. Hoefsloot, Richard A. van Lingen, Claudia Ruivenkamp, Arie van Haeringen, Saskia Koene, Gijs W.E. Santen, Julie W. Rutten, Bart de Koning, Sam Stevens, Arthur van den Wijngaard, Margje Sinnema, Alexander P.A. Stegmann, Maaike Vreeburg, Marieke Vervoorn, Peter Andriessen, D Kasteel, E. M. Adang, A. Chantal Deden, Han G. Brunner, Willem P. de Boode, Helger G. Yntema, Hans Scheffer, Wendy van Zelst-Stams, Rolph Pfundt, Tjitske Kleefstra, A Marouane, Lisenka E.L.M. Vissers, Tessel Rigter, Wendy Rodenburg, Morris A. Swertz, V.V.A.M. Knoers, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, K. Joeri van der Velde, Irene M. van Langen, Mariëlle van Gijn, J. Peter van Tintelen, Linda S. de Vries, G. W. J. Frederix, Hans Kristian Ploos van Amstel, Klaske D. Lichtenbelt, Richelle A. C. M. Olde Keizer, Renske Oegema, Cor Oosterwijk, Daphne Stemkens

    出版事項 2023
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