檢索結果 - Griet Van Buggenhout

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  1. 1
    Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

    Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map 由 Griet Van Buggenhout

    出版 2004
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  2. 2
    Angelman syndrome (AS, MIM 105830)

    Angelman syndrome (AS, MIM 105830) 由 Griet Van Buggenhout, Jean‐Pierre Fryns

    出版 2009
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  3. 3
    Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

    Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder 由 Sophie van Rijn, Lex Stockmann, Griet Van Buggenhout, Conny M.A. van Ravenswaaij‐Arts, Hanna Swaab

    出版 2014
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  4. 4
    Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

    Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills 由 A Denayer, Hilde Van Esch, Thomy de Ravel, Jean‐Pierre Frijns, Griet Van Buggenhout, Annick Vogels, Koenraad Devriendt, J. Geutjens, Paul Thiry, Ann Swillen

    出版 2012
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  5. 5
    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders 由 Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Vermeesch

    出版 2025
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  6. 6
    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) 由 Nicole Maas, Griet Van Buggenhout, Femke Hannes, Bernard Thienpont, Damien Sanlaville, Klaas Kok, Alina T. Midro, Joris Andrieux, B-M Anderlid, Jacqueline Schoumans, Roel Hordijk, Koenraad Devriendt, JP Fryns, Joris Vermeesch

    出版 2007
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  7. 7
    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing 由 Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    出版 2018
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  8. 8
    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies 由 Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M.E. van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    出版 2016
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  9. 9
    Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

    Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge 由 Lore Lannoo, Khaila van Straaten, Jeroen Breckpot, Nathalie Brison, Luc De Catte, Eftychia Dimitriadou, Eric Legius, Hilde Peeters, Ilse Parijs, Olga Tšuiko, Leen Vancoillie, Joris Vermeesch, Griet Van Buggenhout, Kris Van Den Bogaert, Kristel Van Calsteren, Koenraad Devriendt

    出版 2022
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  10. 10
    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator 由 Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Kasole Lubala, Sébastien Mbuyi‐Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy de Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Léon Mutesa, Alain Verloès, Prosper Lukusa-Tshilobo, Koenraad Devriendt

    出版 2016
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  11. 11
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant 由 Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch

    出版 2008
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  12. 12
    Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

    Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH 由 Joris A. Veltman, Yvonne M.H. Versleijen‐Jonkers, Inge Nuijten, Irene M. Janssen, Walter van der Vliet, Erik Huys, Joris Vermeesch, Griet Van Buggenhout, Jean‐Pierre Fryns, R.J.C. Admiraal, Paulien A. Terhal, Didier Lacombe, Ad Geurts van Kessel, Dominique Smeets, Eric Schoenmakers, Conny M.A. van Ravenswaaij‐Arts

    出版 2003
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  13. 13
    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor 由 Jeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, Sean Vandevoort, Greet D'Haenens, Griet Van Buggenhout, Lore Leempoels, Elise Brischoux‐Boucher, Lionel Van Maldergem, Alessandra Renieri, Maria Antonietta Mencarelli, Carla S. D’Angelo, Verónica Mericq, Mariëtte J.V. Hoffer, Maïthé Tauber, Catherine Molinas, Claudia Castiglioni, Nathalie Brison, Joris Vermeesch, Marina Danckaerts, Pascal Sienaert, Koenraad Devriendt, Annick Vogels

    出版 2016
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  14. 14
    Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

    Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome 由 Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Michael J. Bamshad, Bridget Kramer, Arie Smits, Ruth Newbury‐Ecob, Raoul C. M. Hennekam, Griet Van Buggenhout, Arie van Haeringen, C. Geoffrey Woods, Anthonie J. van Essen, Rob de Waal, Gert Vriend, Daniel A. Haber, Annie Yang, Frank McKeon, Han G. Brunner, Hans van Bokhoven

    出版 1999
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  15. 15
    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability 由 Raman Kumar, Mark Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gécz

    出版 2015
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  16. 16
    Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

    Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin 由 András N. Spaan, Anna‐Lena Neehus, Emmanuel Laplantine, Frederik Staels, Masato Ogishi, Yoann Seeleuthner, Franck Rapaport, Keenan A. Lacey, Erika Van Nieuwenhove, Maya Chrabieh, David Hum, Mélanie Migaud, Araksya Izmiryan, Lazaro Lorenzo, Tatiana Kochetkov, Dani A. C. Heesterbeek, Bart W. Bardoel, Ashley Dumont, Kerry Dobbs, Solenne Chardonnet, Søren Heissel, Timour Baslan, Peng Zhang, Rui Yang, Dusan Bogunovic, Herman F. Wunderink, Pieter-Jan Haas, Henrik Molina, Griet Van Buggenhout, Stanislas Lyonnet, Luigi D. Notarangelo, Mikko Seppänen, Robert Weil, Gisela Seminario, Héctor Gomez-Tello, Carine Wouters, Mehrnaz Mesdaghi, Mohammad Shahrooei, Xavier Bossuyt, Erdal Sağ, Rezan Topaloĝlu, Seza Özen, Helen L. Leavis, Maarten M. J. van Eijk, Liliana Bezrodnik, Lizbeth Blancas‐Galicia, Alain Hovnanian, Aude Nassif, Brigitte Bader‐Meunier, Bénédicte Neven, Isabelle Meyts, Rik Schrijvers, Anne Puel, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Victor J. Torres, Stéphanie Humblet‐Baron, Adrian Liston, Laurent Abel, Bertrand Boisson, Jean‐Laurent Casanova

    出版 2022
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