Search Results - David A. Koolen

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  1. 1
    Whole exome sequencing of suspected mitochondrial patients in clinical practice

    Whole exome sequencing of suspected mitochondrial patients in clinical practice by Saskia B. Wortmann, David A. Koolen, Jan Smeitink, Lambert den van Heuvel, Richard J. Rodenburg

    Published 2015
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  2. 2
    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities by Ilse Feenstra, Jiayi Fang, David A. Koolen, A. Siezen, C. R. Evans, R M Winter, Melissa Lees, Mariluce Riegel, Bert B.A. de Vries, Conny M.A. van Ravenswaaij, Albert Schinzel

    Published 2005
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  3. 3
    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa... by Tracy Dudding‐Byth, Anne Baxter, Elizabeth Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han G. Brunner, Bert de Vries, David A. Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell

    Published 2017
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  4. 4
    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications by David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir‐Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik A. Sistermans, H.J.M. Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman, Bert B.A. de Vries

    Published 2008
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  5. 5
    Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

    Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency by Laura Sánchez‐Caballero, Benedetta Ruzzenente, L Bianchi, Zahra Assouline, Giulia Barcia, Metodi D. Metodiev, Marlène Rio, Benoît Funalot, Mariël A.M. van den Brand, Sergio Guerrero‐Castillo, J. Molenaar, David A. Koolen, Ulrich Brandt, Richard J. Rodenburg, Leo Nijtmans, Agnès Rötig

    Published 2016
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  6. 6
    Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

    Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) by David A. Koolen, Willy M. Nillesen, Martina H. A. Versteeg, Gerard Merkx, Nine V.A.M. Knoers, Marleen Kets, Sascha Vermeer, Conny M.A. van Ravenswaaij, Carolien G. F. de Kovel, Han G. Brunner, Dominique Smeets, Bert B.A. de Vries, Erik A. Sistermans

    Published 2004
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  7. 7
    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders by Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven, Michele Gabriele, Monica Frega, Teun M. Klein Gunnewiek, Lynn Devilée, Edda Ulferts, Marina P. Hommersom, Astrid Oudakker, Chantal Schoenmaker, Hans van Bokhoven, Dirk Schubert, Giuseppe Testa, David A. Koolen, Bert B.A. de Vries, Nael Nadif Kasri

    Published 2021
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  8. 8
    Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H

    Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H by Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong‐Hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio

    Published 2017
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  9. 9
    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability by Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers

    Published 2012
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  10. 10
    Diagnostic Genome Profiling in Mental Retardation

    Diagnostic Genome Profiling in Mental Retardation by Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink, David A. Koolen, Lisenka E.L.M. Vissers, Irene M. Janssen, Simon V. van Reijmersdal, Willy M. Nillesen, Erik Huys, Nicole de Leeuw, Dominique Smeets, Erik A. Sistermans, Ton Feuth, Conny M.A. van Ravenswaaij‐Arts, Ad Geurts van Kessel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman

    Published 2005
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  11. 11
    Aminoacyl-tRNA synthetase deficiencies in search of common themes

    Aminoacyl-tRNA synthetase deficiencies in search of common themes by Sabine A. Fuchs, Imre F. Schene, Gautam Kok, J. Jansen, Peter G. J. Nikkels, Koen L.I. van Gassen, Suzanne W. J. Terheggen-Lagro, Saskia N. van der Crabben, Sanne E. Hoeks, Laetitia E.M. Niers, Nicole I. Wolf, Maaike C. de Vries, David A. Koolen, Roderick H.J. Houwen, Margot F. Mulder, Peter M. van Hasselt

    Published 2018
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  12. 12
    Treatment Responsiveness in KCNT1-Related Epilepsy

    Treatment Responsiveness in KCNT1-Related Epilepsy by Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffen Syrbe, Nienke E. Verbeek, Hannah Stamberger, Sarah Weckhuysen, Berten Ceulemans, An-Sofie Schoonjans, Massimiliano Rossi, Geneviève Demarquay, Gaëtan Lesca, Kern Olofsson, David A. Koolen, Frauke Hornemann, Stéphanie Baulac, Guido Rubboli, Kelly Q. Minks, Bo Hoon Lee, Ingo Helbig, Dennis Dlugos, Rikke S. Møller, David Bearden

    Published 2019
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  13. 13
    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophila</i>

    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophi... by Marjolein H. Willemsen, Bonnie Nijhof, Michaela Fencková, Willy M. Nillesen, Ernie M.H.F. Bongers, Anna Castells‐Nobau, Lenke Asztalos, Erika Viràgh, Bregje W.M. van Bon, Emre Tezel, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries, Joep de Ligt, Helger G. Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltán Asztalos, David A. Koolen, Lisenka E.L.M. Vissers, Annette Schenck, Tjitske Kleefstra

    Published 2013
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  14. 14
    Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

    Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy by Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret Au, Alessandro Capuano, Emanuela Piermarini, Anna Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara L. Levine, Antonella Sferra, Maria Lisa Dentici, Rolph Pfundt, Jean‐Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol Saunders, Enrico Bertini, Richard Kahn, David A. Koolen, Marco Tartaglia

    Published 2016
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  15. 15
    Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

    Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior by Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, D.L. Polla, Modi Safra, Avia Zisso, Christopher A. Powell, Pedro Rebelo‐Guiomar, Nadja Dinges, Violeta Morı́n, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M. Ahmed, Rolph Pfundt, F. Schwarz, Lonneke de Boer, André Reis, Detelina Grozeva, F. Lucy Raymond, Sheikh Riazuddin, David A. Koolen, Michal Minczuk, Jean‐Yves Roignant, Hans van Bokhoven, Schraga Schwartz

    Published 2018
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  16. 16
    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy by Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín‐Hernández, María J. Guillen Sacoto, Lindsay B. Henderson, Heather M. McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

    Published 2018
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  17. 17
    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype by Bregje W.M. van Bon, David A. Koolen, Louise Brueton, Dominic McMullan, Klaske D. Lichtenbelt, Lesley C. Adès, Gregory B. Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, F Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan Pm de Brouwer, Joris A. Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, S Reitano, D Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

    Published 2009
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  18. 18
    Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

    Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy by Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh van den Born, Stanley Lambertus, Heleen H. Arts, Theo Peters, Carel B. Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J.F. Letteboer, Erwin van Wijk, Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers, Karsten Boldt, Elfride De Baere, Caroline C. W. Klaver, Frauke Coppieters, David A. Koolen, Dorien Lugtenberg, Kornelia Neveling, Jeroen van Reeuwijk, Marius Ueffing, Sylvia E. C. van Beersum, Marijke N. Zonneveld-Vrieling

    Published 2014
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  19. 19
    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders by Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers

    Published 2022
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  20. 20
    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer by Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

    Published 2018
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