Search Results - Han G. Brunner

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  1. 1
    The p63 gene in EEC and other syndromes

    The p63 gene in EEC and other syndromes by Han G. Brunner

    Published 2002
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  2. 2
    50 years of Robinow syndrome

    50 years of Robinow syndrome by Juliana F. Mazzeu, Han G. Brunner

    Published 2020
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  3. 3
    Splitting p63

    Splitting p63 by Hans van Bokhoven, Han G. Brunner

    Published 2002
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  4. 4
    Disease gene identification strategies for exome sequencing

    Disease gene identification strategies for exome sequencing by Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman

    Published 2012
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  5. 5
    Unlocking Mendelian disease using exome sequencing

    Unlocking Mendelian disease using exome sequencing by Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman

    Published 2011
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  6. 6
    A new web-based data mining tool for the identification of candidate genes for human genetic disorders

    A new web-based data mining tool for the identification of candidate genes for human genetic disorders by Marc A. van Driel, Koen Cuelenaere, Patrick Kemmeren, Jack A. M. Leunissen, Han G. Brunner

    Published 2003
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  7. 7
    A text-mining analysis of the human phenome

    A text-mining analysis of the human phenome by Marc A. van Driel, Jorn Bruggeman, Gert Vriend, Han G. Brunner, Jack A. M. Leunissen

    Published 2006
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  8. 8
    A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

    A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? by Ilse Gutierrez-Roelens, Luc De Roy, Caroline Ovaert, Thierry Sluysmans, Koenraad Devriendt, Han G. Brunner, Miikka Vikkula

    Published 2006
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  9. 9
    GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

    GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases by Marc A. van Driel, Koen Cuelenaere, Patrick Kemmeren, J.A.M. Leunissen, Han G. Brunner, Gert Vriend

    Published 2005
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  10. 10
    Presymptomatic diagnosis of myotonic dystrophy.

    Presymptomatic diagnosis of myotonic dystrophy. by Han G. Brunner, W Nillesen, Bernard A. van Oost, Gert Jansen, Bé Wieringa, H.-H. Ropers, Hubert J.M. Smeets

    Published 1992
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  11. 11
    Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review

    Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review by Charlotte H. W. Wijers, Iris A.L.M. van Rooij, Carlo Marcelis, Han G. Brunner, Ivo de Blaauw, Nel Roeleveld

    Published 2014
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  12. 12
    A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.

    A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. by Robert Kraaij, M Post, Hannie Kremer, Edwin Milgröm, W. Epping, Han G. Brunner, J. Anton Grootegoed, Axel P. N. Themmen

    Published 1995
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  13. 13
    Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

    Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy by Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, A. Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, Frans P.M. Cremers

    Published 2000
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  14. 14
    Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

    Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome by Tom Stiff, Meryem Alagöz, Diana Alcantara, Emily Outwin, Han G. Brunner, Ernie M.H.F. Bongers, Mark O’Driscoll, Penny A. Jeggo

    Published 2013
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  15. 15
    An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.

    An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. by S. P. A. Toledo, Han G. Brunner, Robert Kraaij, M Post, Patricia L. M. Dahia, C Y Hayashida, A P Kremer H Themmen

    Published 1996
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  16. 16
    Plasma Metadrenalines: Do they Provide Useful Information about Sympatho-Adrenal Function and Catecholamine Metabolism?

    Plasma Metadrenalines: Do they Provide Useful Information about Sympatho-Adrenal Function and Catecholamine Metabolism? by Graeme Eisenhofer, Peter Friberg, Karel Pacák, David S. Goldstein, Dennis L. Murphy, Constantine Tsigos, Arshed A. Quyyumi, Han G. Brunner, Jacques W.M. Lenders

    Published 1995
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  17. 17
    Meier-Gorlin syndrome

    Meier-Gorlin syndrome by Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Published 2015
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  18. 18
    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes by Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen

    Published 2017
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  19. 19
    Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

    Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. by Henny H. Lemmink, W Nillesen, Toshio Mochizuki, Cornelis H. Schröder, Han G. Brunner, Bernard A. van Oost, L.A.H. Monnens, H.J.M. Smeets

    Published 1996
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  20. 20
    Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

    Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly by Jeffrey E. Ming, Michelle E. Kaupas, Erich Roessler, Han G. Brunner, Mahin Golabi, Mustafa Tekin, Robert F. Stratton, Eva Sujansky, Sherri J. Bale, Maximilian Muenke

    Published 2002
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