Sökresultat - R.J.C. Admiraal

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  1. 1
    Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

    Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction av Margit Schraders, Jaap Oostrik, P.L.M. Huygen, Tim M. Strom, Erwin van Wijk, Henricus P. M. Kunst, Lies H. Hoefsloot, Cor W. R. J. Cremers, R.J.C. Admiraal, Hannie Kremer

    Publicerad 2010
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  2. 2
    Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

    Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss av Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, R.J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

    Publicerad 2010
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  3. 3
    Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

    Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment av Margit Schraders, Stefan A. Haas, N.J.D. Weegerink, Jaap Oostrik, Hao Hu, Lies H. Hoefsloot, Sriram Kannan, P.L.M. Huygen, Ronald J. E. Pennings, R.J.C. Admiraal, Vera M. Kalscheuer, Henricus P. M. Kunst, Hannie Kremer

    Publicerad 2011
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  4. 4
    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 av Celia Zazo Seco, Anne M.M. Oonk, María Domínguez-Ruiz, Jos Draaisma, Marta Gandía, Jaap Oostrik, Kornelia Neveling, Henricus P. M. Kunst, Lies H. Hoefsloot, Ignacio del Castillo, Ronald J. E. Pennings, Hannie Kremer, R.J.C. Admiraal, Margit Schraders

    Publicerad 2014
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  5. 5
    Missense mutations in<i>POU4F3</i>cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

    Missense mutations in<i>POU4F3</i>cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding av Rob W.J. Collin, Ramesh Chellappa, Robert-Jan Pauw, Gert Vriend, Jaap Oostrik, Wendy van Drunen, P.L.M. Huygen, R.J.C. Admiraal, Lies H. Hoefsloot, Frans P.M. Cremers, Mengqing Xiang, Cor W. R. J. Cremers, Hannie Kremer

    Publicerad 2008
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  6. 6
    Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

    Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human av Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders, Kausik K. Ray, Michael S. Hildebrand, Arabandi Ramesh, C. R. Srikumari Srisailapathy, Jaap Oostrik, R.J.C. Admiraal, Harold R. Neely, Joseph R. Latoche, Richard J. Smith, John K. Northup, Hannie Kremer, Jeffrey R. Holt, Konrad Noben‐Trauth

    Publicerad 2011
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  7. 7
    Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

    Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations av N.J.D. Weegerink, Margit Schraders, Jaap Oostrik, P.L.M. Huygen, Tim M. Strom, Susanne Granneman, Ronald J. E. Pennings, Hanka Venselaar, Lies H. Hoefsloot, Mariet Elting, Cor W. R. J. Cremers, R.J.C. Admiraal, Hannie Kremer, Henricus P. M. Kunst

    Publicerad 2011
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  8. 8
    Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

    Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment av Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, P.L.M. Huygen, Ghazanfar Ali, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Sulman Basit, Muhammad Ansar, Cor W. R. J. Cremers, Henricus P. M. Kunst, Wasim Ahmad, R.J.C. Admiraal, Suzanne M. Leal, Hannie Kremer

    Publicerad 2010
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  9. 9
    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 av 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

    Publicerad 2003
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  10. 10
    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 av 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

    Publicerad 2004
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  11. 11
    CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

    CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene av 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

    Publicerad 2005
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  12. 12
    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment av Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay, Jaap Oostrik, Francisco Castillo, Orhan Sezgın, Andy J. Beynon, Tim M. Strom, Ronald J. E. Pennings, Celia Zazo Seco, Anne M.M. Oonk, Henricus P. M. Kunst, María Domínguez-Ruiz, Ana María García-Arumí, Miguel Del Campo, Manuela Villamar, Lies H. Hoefsloot, Felipe Moreno, R.J.C. Admiraal, Ignacio del Castillo, Hannie Kremer

    Publicerad 2012
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  13. 13
    Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

    Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy av Ernie M.H.F. Bongers, F.T.M. Huysmans, Elena Levtchenko, Jacky W. de Rooy, Johan G. Blickman, R.J.C. Admiraal, P.L.M. Huygen, J.R.M. Cruysberg, Pauline A M P Toolens, Judith B. Prins, Paul F. M. Krabbe, George F. Borm, Jeroen Schoots, Hans van Bokhoven, Angela M F van Remortele, Lies H. Hoefsloot, Albert van Kampen, Nine V.A.M. Knoers

    Publicerad 2005
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  14. 14
    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse av Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters, Adelaida M. Celaya, Anne M.M. Oonk, Margit Schraders, Jaap Oostrik, Elena Gómez-Rosas, Andy J. Beynon, Bas P. Hartel, Kees Okkersen, Hans J. P. M. Koenen, Jack Weeda, Stefan H. Lelieveld, Nicol C. Voermans, Irma Joosten, Carel B. Hoyng, Peter Lichtner, Henricus P. M. Kunst, Ilse Feenstra, Suzanne E. de Bruijn, R.J.C. Admiraal, Helger G. Yntema, Erwin van Wijk, Ignacio del Castillo, Pau Serra, Isabel Varela‐Nieto, Ronald J. E. Pennings, Hannie Kremer, M. F. van Dooren, H.H.W. de Gier, E. H. Hoefsloot, Marc P. van der Schroeff, Sarina G. Kant, Liselotte J. C. Rotteveel, Suzanna G.M. Frints, J.R. Hof, Robert J. Stokroos, Els K. Vanhoutte, R.J.C. Admiraal, Ilse Feenstra, Hannie Kremer, Henricus P. M. Kunst, Ronald J. E. Pennings, Helger G. Yntema, A.J. van Essen, Rolien H. Free, J.S. Klein-Wassink

    Publicerad 2018
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  15. 15
    Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary

    Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary av Aebele B. Mink van der Molen, Johanna M. M. van Breugel, Nard G. Janssen, R.J.C. Admiraal, Léon N. A. van Adrichem, F. Bierenbroodspot, Dirk Bittermann, Marie‐José H. van den Boogaard, Pieter H. Broos, Janet J. M. Dijkstra-Putkamer, M.C.M. van Gemert-Schriks, Andrea L. J. Kortlever, Chantal M. Mouës-Vink, Henriëtte F. N. Swanenburg de Veye, Nanouk van Tol-Verbeek, Christl Vermeij‐Keers, Hester de Wilde, Anne Marie Kuijpers‐Jagtman

    Publicerad 2021
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  16. 16
    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 av Celia Zazo Seco, Luciana Serrão de Castro, Josephine W. van Nierop, Matías Morin, Shalini N. Jhangiani, Eva J. J. Verver, Margit Schraders, Nadine Maiwald, Mieke Wesdorp, Hanka Venselaar, Liesbeth Spruijt, Jaap Oostrik, Jeroen Schoots, Jeroen van Reeuwijk, Stefan H. Lelieveld, P.L.M. Huygen, María Insenser, R.J.C. Admiraal, Ronald J. E. Pennings, Lies H. Hoefsloot, Alejandro Arias Vásquez, Joep de Ligt, Helger G. Yntema, Joop H. Jansen, Donna M. Muzny, Gerwin Huls, Michelle M. van Rossum, James R. Lupski, Miguel A. Moreno‐Pelayo, Henricus P. M. Kunst, Hannie Kremer

    Publicerad 2015
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  17. 17
    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands av Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Stefan H. Lelieveld, Steven Castelein, Christian Gilissen, Ilse J. de Wijs, R.J.C. Admiraal, Ronald J. E. Pennings, Henricus P. M. Kunst, Jiddeke M. van de Kamp, Saskia Tamminga, Arjan C. Houweling, Astrid S. Plomp, Saskia M. Maas, Pia AM de Koning Gans, Sarina G. Kant, Christa M. de Geus, Suzanna G.M. Frints, Els K. Vanhoutte, Marieke F. van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies H. Hoefsloot, Margit Schraders, Helger G. Yntema

    Publicerad 2016
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  18. 18
    AGORA, a data‐ and biobank for birth defects and childhood cancer

    AGORA, a data‐ and biobank for birth defects and childhood cancer av Iris A.L.M. van Rooij, Loes F.M. van der Zanden, Ernie M.H.F. Bongers, Kirsten Y. Renkema, Charlotte H. W. Wijers, Michelle Thonissen, Elisabeth M.J. Dokter, Carlo Marcelis, Ivo de Blaauw, Marc H.W.A. Wijnen, Peter M. Hoogerbrugge, Jos P.M. Bökkerink, Michiel F. Schreuder, Linda Koster‐Kamphuis, Marlies Cornelissen, Livia Kapusta, Arno van Heijst, Kian D. Liem, R.P.E. de Gier, Anne Marie Kuijpers‐Jagtman, R.J.C. Admiraal, Stefaan Bergé, Jan Jaap van der Biezen, Anna Verdonck, Vincent Vander Poorten, Greet Hens, Jasmien Roosenboom, Marc R. Liliën, Tom P.V.M. de Jong, Paul M.A. Broens, René Wijnen, Alice Brooks, Barbara Franke, Han G. Brunner, Carine Carels, Nine Knoers, Wout Feitz, Nel Roeleveld

    Publicerad 2016
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