Resultats de la cerca - Hans Scheffer

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  1. 1
    Stepwise ABC system for classification of any type of genetic variant

    Stepwise ABC system for classification of any type of genetic variant per Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen

    Publicat 2021
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  2. 2
    Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa

    Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa per Hiram Larangeira de Almeida, Luciane Maria Alves Monteiro, Ricardo Marques e Silva, Nara Moreira Rocha, Hans Scheffer

    Publicat 2013
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  3. 3
    Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion

    Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion per Marcel F. Jonkman, Hans Scheffer, Rein P. Stulp, Hendri H. Pas, Miranda Nijenhuis, K Heeres, Katsushi Owaribe, Leena Pulkkinen, Jouni Uitto

    Publicat 1997
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  4. 4
    The Association Between HTR2C Gene Polymorphisms and the Metabolic Syndrome in Patients With Schizophrenia

    The Association Between HTR2C Gene Polymorphisms and the Metabolic Syndrome in Patients With Schizophrenia per Hans Mulder, Barbara Franke, Annemarie Aart van der- Beek van der, Johan Arends, Frederik W. Wilmink, Hans Scheffer, Toine C. G. Egberts

    Publicat 2007
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  5. 5
    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 per Erik‐Jan Kamsteeg, Wolfram Kreß, Claudio Catalli, Jens Michael Hertz, Martina Witsch‐Baumgartner, Michael F. Buckley, Baziel G.M. van Engelen, Marianne Schwartz, Hans Scheffer

    Publicat 2012
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  6. 6
    The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

    The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation per Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G. Brunner, Pascale Guicheney, Hans van Bokhoven

    Publicat 2006
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  7. 7
    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders per Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg

    Publicat 2016
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  8. 8
    An association study of 45 folate‐related genes in spina bifida: Involvement of <i>cubilin</i> (<i>CUBN</i>) and <i>tRNA aspartic acid methyltransferase 1</i> (<i>TRDMT1</i>)

    An association study of 45 folate‐related genes in spina bifida: Involvement of <i>cubilin</i> (<i>CUBN</i>) and <i>tRNA aspartic acid methyltransferase 1</i> (<i>TRDMT1</i>) per Barbara Franke, Sita H. Vermeulen, Régine P.M. Steegers‐Theunissen, Marieke J. H. Coenen, Mascha M.V.A.P. Schijvenaars, Hans Scheffer, Martin den Heijer, Henk J. Blom

    Publicat 2009
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  9. 9
    A Cystic Fibrosis Mutation Associated with Mild Lung Disease

    A Cystic Fibrosis Mutation Associated with Mild Lung Disease per K. H. Gan, Henk J. Veeze, Ans van den Ouweland, Dicky Halley, Hans Scheffer, Annemieke van der Hout, Shelley E. Overbeek, Johan C. de Jongste, Willem H. Bakker, Harry Heijerman

    Publicat 1995
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  10. 10
    ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

    ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia per Sascha Vermeer, Rowdy Meijer, Benjamin J. Pijl, Janneke Timmermans, J.R.M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart P.C. van de Warrenburg, Nine Knoers, Hans Scheffer, B. Kremer

    Publicat 2008
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  11. 11
    Erratum: Guidelines for diagnostic next-generation sequencing

    Erratum: Guidelines for diagnostic next-generation sequencing per Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Publicat 2016
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  12. 12
    Guidelines for diagnostic next-generation sequencing

    Guidelines for diagnostic next-generation sequencing per Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Publicat 2015
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  13. 13
    Association of the dopamine transporter (<i>SLC6A3/DAT1</i>) gene 9–6 haplotype with adult ADHD

    Association of the dopamine transporter (<i>SLC6A3/DAT1</i>) gene 9–6 haplotype with adult ADHD per Barbara Franke, Martine Hoogman, Alejandro Arias Vásquez, J. G. A. M. Heister, Paul J.M. Savelkoul, Marlies Naber, Hans Scheffer, Lambertus A. Kiemeney, Carol Kan, J. J. Sandra Kooij, Jan K. Buitelaar

    Publicat 2008
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  14. 14
    Genotype-phenotype correlations in MYCN-related Feingold syndrome

    Genotype-phenotype correlations in MYCN-related Feingold syndrome per Carlo Marcelis, Frans A. Hol, Gail E. Graham, Paul N.M.A. Rieu, Richárd Kellermayer, Rowdy Meijer, Dorien Lugtenberg, Hans Scheffer, Hans van Bokhoven, Han G. Brunner, Arjan P.M. de Brouwer

    Publicat 2008
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  15. 15
    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations per Elisabeth Dequeker, Manfred Stuhrmann, Michael A. Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie des Georges, Claude Férec, Milan Maçek, Pierfranco Pignatti, Hans Scheffer, Marianne Schwartz, Michał Witt, Martin Schwarz, Emmanuelle Girodon

    Publicat 2008
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  16. 16
    Effects of Keratin 14 Ablation on the Clinical and Cellular Phenotype in a Kindred with Recessive Epidermolysis Bullosa Simplex

    Effects of Keratin 14 Ablation on the Clinical and Cellular Phenotype in a Kindred with Recessive Epidermolysis Bullosa Simplex per Marcel F. Jonkman, K Heeres, Hendri H. Pas, Marja J.A. van Luyn, Job D. Elema, Laura D. Corden, Frances J.D. Smith, W.H. Irwin McLean, Frans C. S. Ramaekers, Margaret Burton, Hans Scheffer

    Publicat 1996
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  17. 17
    Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

    Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa per Dimitra Kiritsi, Marta García, Renske Brander, Cristina Has, Rowdy Meijer, M.J. Escámez, J. Kohlhase, Peter C. van den Akker, Hans Scheffer, Marcel F. Jonkman, Marcela Del Río, Leena Bruckner‐Tuderman, Anna M.G. Pasmooij

    Publicat 2014
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  18. 18
    Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

    Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations per Susanne T. de Bot, R. T. M. van den Elzen, Arjen R. Mensenkamp, Helenius J. Schelhaas, Michèl A.A.P. Willemsen, Nine V.A.M. Knoers, H.P.H. Kremer, Bart P.C. van de Warrenburg, Hans Scheffer

    Publicat 2010
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  19. 19
    Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

    Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. per Carla van El, Martina C. Cornel, Pascal Borry, Ros Hastings, Florence Fellmann, Shirley V. Hodgson, Heidi Howard, Anne Cambon‐Thomsen, Bartha Maria Knoppers, Hanne Meijers‐Heijboer, Hans Scheffer, Lisbeth Tranebjærg, Wybo Dondorp, Guido M. W. R. de Wert

    Publicat 2013
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  20. 20
    Whole-genome sequencing in health care

    Whole-genome sequencing in health care per Carla van El, Martina C. Cornel, Pascal Borry, Ros Hastings, Florence Fellmann, Shirley V. Hodgson, Heidi Howard, Anne Cambon‐Thomsen, Bartha Maria Knoppers, Hanne Meijers‐Heijboer, Hans Scheffer, Lisbeth Tranebjærg, Wybo Dondorp, Guido M. W. R. de Wert

    Publicat 2013
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