Результаты поиска - Bert B A de Vries

Отмена результатов
  1. 1
    Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

    Clinical studies on submicroscopic subtelomeric rearrangements: a checklist по Bert B.A. de Vries

    Опубликовано 2001
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  2. 2
    The Genetics of Intellectual Disability

    The Genetics of Intellectual Disability по Sandra Jansen, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Опубликовано 2023
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  3. 3
    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis по Lisenka E.L.M. Vissers, Bert B.A. de Vries, Joris A. Veltman

    Опубликовано 2009
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  4. 4
    A de novo variant in the X‐linked gene <i>CNKSR2</i> is associated with seizures and mild intellectual disability in a female patient

    A de novo variant in the X‐linked gene <i>CNKSR2</i> is associated with seizures and mild intellectual disability in a female patient по D.L. Polla, Harriet R. Saunders, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer

    Опубликовано 2019
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  5. 5
    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 по 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

    Опубликовано 2005
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  6. 6
    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome по Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier‐Daire, Hilde Van Esch, Jean‐Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven

    Опубликовано 2006
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  7. 7
    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications по 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

    Опубликовано 2008
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  8. 8
    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) по 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

    Опубликовано 2004
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  9. 9
    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders по 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

    Опубликовано 2021
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  10. 10
    3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

    3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome по Lionel Willatt, James J. Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David Fitzpatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw‐Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B.A. de Vries, Kate Walker, F. Lucy Raymond

    Опубликовано 2005
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  11. 11
    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome по Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A.A.P. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner

    Опубликовано 2012
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  12. 12
    Characterization of a recurrent 15q24 microdeletion syndrome

    Characterization of a recurrent 15q24 microdeletion syndrome по Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue Price, Nine V.A.M. Knoers, Peggy S. Eis, Han G. Brunner, Raoul C. M. Hennekam, Samantha J.L. Knight, Bert B.A. de Vries, Orsetta Zuffardi, Evan E. Eichler

    Опубликовано 2007
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  13. 13
    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function по Fernando Gómez-Herreros, Janneke Schuurs-Hoeijmakers, Mark McCormack, Marie T. Greally, Stuart L. Rulten, Rocío Romero‐Granados, Timothy J. Counihan, Elijah Chaila, Judith Conroy, Sean Ennis, Norman Delanty, Felipe Cortés‐Ledesma, Arjan P.M. de Brouwer, Gianpiero L. Cavalleri, Sherif F. El‐Khamisy, Bert B.A. de Vries, Keith W. Caldecott

    Опубликовано 2014
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  14. 14
    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies по Beata Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp, Birgit Sikkema‐Raddatz, John A. Crolla, Ronald Thoelen, Marion Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie Van Der Kevie-Kersemaekers, Rolph Pfundt, Hanneke Mieloo, Ton van Essen, Bert B A de Vries, Andrew Green, William Reardon, Jean‐Pierre Fryns, Joris Vermeesch

    Опубликовано 2011
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  15. 15
    Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

    Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture по Lisenka E.L.M. Vissers, Samarth Bhatt, Irene M. Janssen, Zhilian Xia, Seema R. Lalani, Rolph Pfundt, Katarzyna Derwińska, Bert B.A. de Vries, Christian Gilissen, Alexander Hoischen, Monika Nesteruk, Barbara Wiśniowiecka‐Kowalnik, Marta Smyk, Han G. Brunner, Sau Wai Cheung, Ad Geurts van Kessel, Joris A. Veltman, Paweł Stankiewicz

    Опубликовано 2009
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  16. 16
    Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

    Mutations in a new member of the chromodomain gene family cause CHARGE syndrome по Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal, Jane A. Hurst, Bert B.A. de Vries, Irene M. Janssen, W A van der Vliet, Erik Huys, Pieter J. de Jong, Ben C.J. Hamel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman, Ad Geurts van Kessel

    Опубликовано 2004
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  17. 17
    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability по 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

    Опубликовано 2012
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  18. 18
    The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism

    The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism по Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke van den Ende, Madhura Bakshi, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar Abdul‐Rahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy

    Опубликовано 2014
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  19. 19
    ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

    ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation по Dorien Lugtenberg, Helger G. Yntema, Martijn J.G. Banning, Astrid Oudakker, Helen V. Firth, Lionel Willatt, Martine Raynaud, Tjitske Kleefstra, Jean‐Pierre Fryns, Hans‐Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gécz, Jeroen van Reeuwijk, Sander B. Nabuurs, Bert B.A. de Vries, Ben C.J. Hamel, Arjan P.M. de Brouwer, Hans van Bokhoven

    Опубликовано 2006
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  20. 20
    CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

    CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene по M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk, Lisenka E.L.M. Vissers, Annette F. Baas, Livia Kapusta, Johanna M. van Hagen, D Donnai, Thomy de Ravel, Joris A. Veltman, Ad Geurts van Kessel, Bert B.A. de Vries, Han G. Brunner, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij

    Опубликовано 2005
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