Risultati della ricerca - Hilde Van Esch

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  1. 1
    <i>MECP2</i> Duplication Syndrome

    <i>MECP2</i> Duplication Syndrome di Hilde Van Esch

    Pubblicazione 2011
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  2. 2
    Network Analysis of Differential Expression for the Identification of Disease-Causing Genes

    Network Analysis of Differential Expression for the Identification of Disease-Causing Genes di Daniela Nitsch, Léon-Charles Tranchevent, Bernard Thienpont, Lieven Thorrez, Hilde Van Esch, Koenraad Devriendt, Yves Moreau

    Pubblicazione 2009
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  3. 3
    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing di Simon Ardui, Valérie Race, Alena Zablotskaya, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch

    Pubblicazione 2016
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  4. 4
    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms di Mala Isrie, Yvonne Hendriks, N Gielissen, Erik A. Sistermans, Marjolein H. Willemsen, Hilde Peeters, Joris Vermeesch, Tjitske Kleefstra, Hilde Van Esch

    Pubblicazione 2011
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  5. 5
    Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of<i>XLMR</i>genes

    Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of<i>XLMR</i>genes di Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris Vermeesch, Koenraad Devriendt, Jean‐Pierre Fryns, Peter Marynen

    Pubblicazione 2007
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  6. 6
    Gain-of-function <i>FHF1</i> mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

    Gain-of-function <i>FHF1</i> mutation causes early-onset epileptic encephalopathy with cerebellar atrophy di Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter de Witte, Hilde Van Esch, Mitchell Goldfarb, Gunnar Buyse

    Pubblicazione 2016
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  7. 7
    Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

    Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis di Hilde Van Esch, Karen Hollanders, Liesbeth Badisco, Cindy Melotte, Paul Van Hummelen, Joris Vermeesch, Koenraad Devriendt, Jean‐Pierre Fryns, Peter Marynen, Guy Froyen

    Pubblicazione 2005
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  8. 8
    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 di A Denayer, Hilde Van Esch, Thomy de Ravel, Jean‐Pierre Frijns, Griet Van Buggenhout, Annick Vogels, Koenraad Devriendt, J. Geutjens, Paul Thiry, Ann Swillen

    Pubblicazione 2012
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  9. 9
    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

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

    Pubblicazione 2025
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  10. 10
    A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility

    A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility di Fabrizia Claudia Guarnieri, Davide Pozzi, Andrea Raimondi, Riccardo Fesce, Marco Valente, Vincenza S Delvecchio, Hilde Van Esch, Michela Matteoli, Fabio Benfenati, Patrizia D’Adamo, Flavia Valtorta

    Pubblicazione 2017
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  11. 11
    A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in <scp>FMRP</scp> localization and function

    A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in <scp>FMRP</scp> localization and function di Zeynep Okray, Celine de Esch, Hilde Van Esch, Koenraad Devriendt, Annelies Claeys, Jiekun Yan, Jelle Verbeeck, Guy Froyen, Rob Willemsen, Femke M.S. de Vrij, Bassem A. Hassan

    Pubblicazione 2015
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  12. 12
    Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships

    Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships di Nadia Bahi‐Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Hélène Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye‐Duriez, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold, Thierry Bienvenu

    Pubblicazione 2012
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  13. 13
    Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

    Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation di Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, Kirsten Hoffmann, Bettina A. Moser, Martine Raynaud, Jürgen Sperner, Jean‐Pierre Fryns, E. Schwinger, Jozef Gécz, Hans‐Hilger Ropers, Vera M. Kalscheuer

    Pubblicazione 2004
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  14. 14
    Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

    Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males di Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jean‐Pierre Fryns, Guy Froyen

    Pubblicazione 2005
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  15. 15
    Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

    Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination di Joke Vandewalle, Hilde Van Esch, Karen Govaerts, Jelle Verbeeck, Christiane Zweier, Irene Madrigal, Montserrat Milà, E Pijkels, Isabel Fernández, Jürgen Kohlhase, Christiane Spaich, Anita Rauch, Jean‐Pierre Fryns, Peter Marynen, Guy Froyen

    Pubblicazione 2009
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  16. 16
    Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients

    Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients di Charlotte D’Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van de Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R. Frank Kooy

    Pubblicazione 2015
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  17. 17
    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing di 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

    Pubblicazione 2018
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  18. 18
    X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

    X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes di Anju K. Philips, Auli Sirén, Kristiina Avela, Mirja Somer, Maarit Peippo, Minna Ahvenainen, Fatma Doagu, Maria Arvio, Helena Kääriäinen, Hilde Van Esch, Guy Froyen, Stefan A. Haas, Hao Hu, Vera M. Kalscheuer, Irma Järvelä

    Pubblicazione 2014
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  19. 19
    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism di Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud

    Pubblicazione 2009
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  20. 20
    Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

    Mutations in NOTCH2 in families with Hajdu-Cheney syndrome di Jacek Majewski, Jeremy Schwartzentruber, Aurore Caqueret, Lysanne Patry, Janet Marcadier, Jean‐Pierre Fryns, Kym M. Boycott, Louis‐Georges Ste‐Marie, Fergus E. McKiernan, Ivo Mařík, Hilde Van Esch, Jacques L. Michaud, Mark E. Samuels

    Pubblicazione 2011
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