Rezultati - Christian R. Marshall

Refine Results
  1. 1
    Structural variants: changing the landscape of chromosomes and design of disease studies

    Structural variants: changing the landscape of chromosomes and design of disease studies od Lars Feuk, Christian R. Marshall, Richard F. Wintle, Stephen W. Scherer

    Izdano 2006
    Polni tekst Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  2. 2
    Genome sequencing as a diagnostic test

    Genome sequencing as a diagnostic test od Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall

    Izdano 2021
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  3. 3
    Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

    Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome od Anne S. Bassett, Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, Stephen W. Scherer

    Izdano 2008
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  4. 4
    1q21.1 Microduplication expression in adults

    1q21.1 Microduplication expression in adults od Alessia Dolcetti, Candice K. Silversides, Christian R. Marshall, Anath C. Lionel, Dimitri J. Stavropoulos, Stephen W. Scherer, Anne S. Bassett

    Izdano 2012
    Polni tekst Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  5. 5
    Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

    Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets od W. David Warnica, Daniele Merico, Gregory Costain, Simon E. Alfred, John Wei, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Izdano 2014
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  6. 6
    Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

    Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome od Adam Shlien, Uri Tabori, Christian R. Marshall, Małgorzata Pieńkowska, Lars Feuk, Ana Novokmet, Sonia Nanda, Harriet Druker, Stephen W. Scherer, David Malkin

    Izdano 2008
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  7. 7
    Complex Copy Number Variation of <i>AMY1</i> does not Associate with Obesity in two East Asian Cohorts

    Complex Copy Number Variation of <i>AMY1</i> does not Associate with Obesity in two East Asian Cohorts od Rita Y.Y. Yong, Su'Aidah Binte Mustaffa, Pavandip Singh Wasan, Sheng Liang, Christian R. Marshall, Stephen W. Scherer, Yik‐Ying Teo, P. H. Yap

    Izdano 2016
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  8. 8
    Contribution of SHANK3 Mutations to Autism Spectrum Disorder

    Contribution of SHANK3 Mutations to Autism Spectrum Disorder od Rainald Moessner, Christian R. Marshall, James S. Sutcliffe, Jennifer Skaug, Dalila Pinto, John B. Vincent, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Peter Szatmari, Stephen W. Scherer

    Izdano 2007
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  9. 9
    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes od Abdul Noor, Lucie Dupuis, Kirti Mittal, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Tracy Stockley, John B. Vincent, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos

    Izdano 2015
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  10. 10
    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing od Theodora U. J. Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian R. Marshall, Saadet Mercimek‐Andrews

    Izdano 2017
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  11. 11
    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic od Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm

    Izdano 2020
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  12. 12
    Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

    Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism od Hyun Ji Noh, Chris P. Ponting, Hannah Boulding, Stephen Meader, Catalina Betancur, Joseph D. Buxbaum, Dalila Pinto, Christian R. Marshall, Anath C. Lionel, Stephen W. Scherer, Caleb Webber

    Izdano 2013
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  13. 13
    Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

    Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways od Candice K. Silversides, Anath C. Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy J. Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Izdano 2012
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  14. 14
    A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder

    A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder od Kate Tsiplova, Richard M. Zur, Christian R. Marshall, Dimitri J. Stavropoulos, Sérgio L. Pereira, Daniele Merico, Edwin J. Young, Wilson W. L. Sung, Stephen W. Scherer, Wendy J. Ungar

    Izdano 2017
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  15. 15
    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature od Chelsea Lowther, Gregory Costain, Dimitri J. Stavropoulos, Rebecca Melvin, Candice K. Silversides, Danielle M. Andrade, Joyce So, Hanna Faghfoury, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Izdano 2014
    Polni tekst Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  16. 16
    Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

    Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia od Christian R. Marshall, Stephen W. Scherer, Maimoona A. Zariwala, Lynette Lau, Tara Paton, Tracy Stockley, Rebekah Jobling, Peter N. Ray, Michael R. Knowles, David A. Hall, Sharon Dell, Raymond H. Kim

    Izdano 2015
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  17. 17
    Peroxisomal D-bifunctional protein deficiency

    Peroxisomal D-bifunctional protein deficiency od Matthew A. Lines, Rebekah Jobling, Lauren Brady, Christian R. Marshall, Stephen W. Scherer, Amadeo R. Rodriguez, Liesly Lee, Anthony E. Lang, Tiago Mestre, Ronald J. A. Wanders, Sacha Ferdinandusse, Mark A. Tarnopolsky

    Izdano 2014
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  18. 18
    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype od Maian Roifman, Carlo Marcelis, Tara Paton, Christian R. Marshall, Rachel Silver, Jamie L. Lohr, Helger G. Yntema, Hanka Venselaar, Hülya Kayserili, Bregje W.M. van Bon, Gareth Seaward, Han G. Brunner, David Chitayat

    Izdano 2014
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  19. 19
    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study od Iris Cohn, Tara Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito

    Izdano 2017
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  20. 20
    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly od Marc Woodbury‐Smith, Éric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Péter Szatmári, Stephen W. Scherer

    Izdano 2017
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:

Iskalna orodja: