检索结果 - Joris A. Veltman

Refine Results
  1. 1
    The role of de novo mutations in adult-onset neurodegenerative disorders

    The role of de novo mutations in adult-onset neurodegenerative disorders 由 Gaël Nicolas, Joris A. Veltman

    出版 2018
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  2. 2
    Novel bioinformatic developments for exome sequencing

    Novel bioinformatic developments for exome sequencing 由 Stefan H. Lelieveld, Joris A. Veltman, Christian Gilissen

    出版 2016
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  3. 3
    New insights into the generation and role of de novo mutations in health and disease

    New insights into the generation and role of de novo mutations in health and disease 由 Rocío Acuña‐Hidalgo, Joris A. Veltman, Alexander Hoischen

    出版 2016
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  4. 4
    De Novo Mutations Reflect Development and Aging of the Human Germline

    De Novo Mutations Reflect Development and Aging of the Human Germline 由 Jakob M. Goldmann, Joris A. Veltman, Christian Gilissen

    出版 2019
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  5. 5
    Disease gene identification strategies for exome sequencing

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

    出版 2012
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  6. 6
    Unlocking Mendelian disease using exome sequencing

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

    出版 2011
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  7. 7
    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Pathogenic or not? Assessing the clinical relevance of copy number variants 由 JY Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Nicole de Leeuw

    出版 2013
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  8. 8
    Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

    Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics 由 Laurens Wiel, Hanka Venselaar, Joris A. Veltman, Gert Vriend, Christian Gilissen

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions 由 Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman, Christian Gilissen

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis 由 Lisenka E.L.M. Vissers, Bert B.A. de Vries, Joris A. Veltman

    出版 2009
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  11. 11
    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains 由 Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    出版 2019
    获取全文 获取全文
    Pré-impressão
    加到收藏夹
    Saved in:
  12. 12
    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains 由 Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    Front Cover, Volume 40, Issue 8

    Front Cover, Volume 40, Issue 8 由 Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    出版 2019
    获取全文
    Paratexto
    加到收藏夹
    Saved in:
  14. 14
    Disease gene discovery in male infertility: past, present and future

    Disease gene discovery in male infertility: past, present and future 由 Miguel J. Xavier, Albert Salas‐Huetos, Manon S. Oud, Kenneth I. Aston, Joris A. Veltman

    出版 2020
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  15. 15
    Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes

    Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes 由 Yukiko Kikuchi, Mohammed Uddin, Joris A. Veltman, Sara Wells, Christopher Morris, Marc Woodbury‐Smith

    出版 2025
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    Reduced purifying selection prevails over positive selection in human copy number variant evolution

    Reduced purifying selection prevails over positive selection in human copy number variant evolution 由 Duc-Quang Nguyen, Caleb Webber, Jayne Y. Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Chris P. Ponting

    出版 2008
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  17. 17
    Genome-Wide Array-Based Comparative Genomic Hybridization Reveals Multiple Amplification Targets and Novel Homozygous Deletions in Pancreatic Carcinoma Cell Lines

    Genome-Wide Array-Based Comparative Genomic Hybridization Reveals Multiple Amplification Targets and Novel Homozygous Deletions in Pancreatic Carcinoma Cell Lines 由 Markus Heidenblad, Eric Schoenmakers, Tord Jonson, Ludmila Gorunova, Joris A. Veltman, Ad Geurts van Kessel, Mattias Höglund

    出版 2004
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    A systematic review and standardized clinical validity assessment of male infertility genes

    A systematic review and standardized clinical validity assessment of male infertility genes 由 Manon S. Oud, Ludmila Voložonoka, Roos M. Smits, Lisenka E.L.M. Vissers, Liliana Ramos, Joris A. Veltman

    出版 2019
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  19. 19
    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hy... 由 Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    出版 2014
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  20. 20
    Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis

    Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on... 由 Jayne Y. Hehir‐Kwa, M. Egmont‐Petersen, Irene M. Janssen, Dominique Smeets, Ad Geurts van Kessel, Joris A. Veltman

    出版 2007
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: