Resultados de procura - R. Frank Kooy

Limitar resultados
  1. 1
    The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

    The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders por Sien Braat, R. Frank Kooy

    Publicado 2015
    Ligazón do recurso Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  2. 2
    Fragile sites and human disease

    Fragile sites and human disease por Kim Debacker, R. Frank Kooy

    Publicado 2007
    Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  3. 3
    Mouse models of fragile X-related disorders

    Mouse models of fragile X-related disorders por Rob Willemsen, R. Frank Kooy

    Publicado 2023
    Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  4. 4
    Fragile X syndrome: from molecular genetics to therapy

    Fragile X syndrome: from molecular genetics to therapy por Charlotte D’Hulst, R. Frank Kooy

    Publicado 2009
    Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  5. 5
    De novo mutations, genetic mosaicism and human disease

    De novo mutations, genetic mosaicism and human disease por Mohiuddin Mohiuddin, R. Frank Kooy, Christopher E. Pearson

    Publicado 2022
    Ligazón do recurso Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  6. 6
    CNV-WebStore: Online CNV Analysis, Storage and Interpretation

    CNV-WebStore: Online CNV Analysis, Storage and Interpretation por Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R. Frank Kooy

    Publicado 2011
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  7. 7
    VariantDB: a flexible annotation and filtering portal for next generation sequencing data

    VariantDB: a flexible annotation and filtering portal for next generation sequencing data por Geert Vandeweyer, Lut Van Laer, Bart Loeys, Tim Van den Bulcke, R. Frank Kooy

    Publicado 2014
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  8. 8
    CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

    CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1 por Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay, Dominique Smeets, Arie P.T. Smits, David Fitzpatrick, R. Frank Kooy

    Publicado 2007
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  9. 9
    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease por Dale Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis‐Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy

    Publicado 2021
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  10. 10
    Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice

    Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice por Victor Sabanov, Sien Braat, Laura D’Andrea, Rob Willemsen, Shimriet Zeidler, Liesbeth Rooms, Claudia Bagni, R. Frank Kooy, Detlef Balschun

    Publicado 2016
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  11. 11
    Craniofacial characteristics of fragile X syndrome in mouse and man

    Craniofacial characteristics of fragile X syndrome in mouse and man por Inge Heulens, Michael Suttie, Andrei Postnov, Nora De Clerck, Concetta Simona Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, R. Frank Kooy, Peter Hammond

    Publicado 2012
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  12. 12
    Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

    Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) por Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, J. Wauters, Berten Ceulemans, Jenneke van den Ende, Yolande van Bever, R. Frank Kooy

    Publicado 2003
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  13. 13
    Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice

    Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice por Debby Van Dam, Rudi D’Hooge, Ehud Hauben, Edwin Reyniers, Ilse Gantois, Cathy Bakker, Ben A. Oostra, R. Frank Kooy, Peter Paul De Deyn

    Publicado 2000
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  14. 14
    Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study

    Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study por Yanina Ivashko‐Pachima, Adva Hadar, Iris Grigg, Vlasta Korenková, Oxana Kapitansky, Gidon Karmon, Michael Gershovits, Carmen Laura Sayas, R. Frank Kooy, Johannes Attems, David Gurwitz, Illana Gozes

    Publicado 2019
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  15. 15
    The GABA<sub>A</sub>receptor is an FMRP target with therapeutic potential in fragile X syndrome

    The GABA<sub>A</sub>receptor is an FMRP target with therapeutic potential in fragile X syndrome por Sien Braat, Charlotte D’Hulst, Inge Heulens, Silvia De Rubeis, Edwin Mientjes, David L. Nelson, Rob Willemsen, Claudia Bagni, Debby Van Dam, Peter Paul De Deyn, R. Frank Kooy

    Publicado 2015
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  16. 16
    A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

    A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome por Andrew Ligsay, Anke Van Dijck, Danh V. Nguyen, Reymundo Lozano, Yanjun Chen, Erika Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R. Frank Kooy, Randi J. Hagerman

    Publicado 2017
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  17. 17
    Tauopathy in the young autistic brain: novel biomarker and therapeutic target

    Tauopathy in the young autistic brain: novel biomarker and therapeutic target por Iris Grigg, Yanina Ivashko‐Pachima, Tom Aharon Hait, Vlasta Korenková, Olga Touloumi, Roza Lagoudaki, Anke Van Dijck, Zlatko Marušić, Mirna Aničić, Jurica Vuković, R. Frank Kooy, Nikolaos Grigoriadis, Illana Gozes

    Publicado 2020
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  18. 18
    Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

    Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism por Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy

    Publicado 2023
    Ligazón do recurso Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  19. 19
    A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

    A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions por Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh E. Olsen, Benedict Paten, Beate Ritz, R. Frank Kooy, Jozef Gécz, Andrew J. Sharp

    Publicado 2020
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  20. 20
    Erratum: Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

    Erratum: Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children por Illana Gozes, Anke Van Dijck, Gal Hacohen-Kleiman, Iris Grigg, Gidon Karmon, E. Giladi, Michelle Nascimento Meger, Yankel Gabet, M Pasmanik-Chor, Elisa Cappuyns, Orly Elpeleg, R. Frank Kooy, Sandra Bedrosian‐Sermone

    Publicado 2017
    Ligazón do recurso
    Errata/Corrigenda
    Engadir a favoritos
    Gardado en:

Ferramentas de procura: