检索结果 - Lucy Raymond

Refine Results
  1. 1
    X linked mental retardation: a clinical guide

    X linked mental retardation: a clinical guide 由 F. Lucy Raymond

    出版 2005
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  2. 2
    The genetics of mental retardation

    The genetics of mental retardation 由 F. Lucy Raymond, Patrick Tarpey

    出版 2006
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  3. 3
    Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

    Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences 由 Kate Baker, Rory T. Devine, Elise Ng‐Cordell, F. Lucy Raymond, Claire Hughes

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Recommendations for designing genetic test reports to be understood by patients and non-specialists

    Recommendations for designing genetic test reports to be understood by patients and non-specialists 由 George Farmer, Harry Gray, Gemma Chandratillake, F. Lucy Raymond, Alexandra L. J. Freeman

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

    Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease 由 Dale Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis‐Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Epilepsy, cognitive deficits and neuroanatomy in males with <i><scp>ZDHHC</scp>9</i> mutations

    Epilepsy, cognitive deficits and neuroanatomy in males with <i><scp>ZDHHC</scp>9</i> mutations 由 Kate Baker, Duncan E. Astle, Gaia Scerif, Jessica Barnes, JENNIE SMITH, Georgina Moffat, Jonathan H. Gillard, Torsten Baldeweg, F. Lucy Raymond

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study

    Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study 由 Samuel J. R. A. Chawner, Michael J. Owen, Peter Holmans, F. Lucy Raymond, David Skuse, Jérémy Hall, Marianne B. M. van den Bree

    出版 2019
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 由 Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean‐Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana Josifova

    出版 2010
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

    Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks 由 Claudia Kerzendorfer, Annabel Whibley, Gillian Carpenter, Emily Outwin, Shih‐Chieh Chiang, Gillian Turner, Charles E. Schwartz, Sherif F. El‐Khamisy, F. Lucy Raymond, Mark O’Driscoll

    出版 2010
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

    Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth 由 Claire C. Homan, Raman Kumar, Lam Son Nguyen, Eric Haan, F. Lucy Raymond, Fatima Abidi, Martine Raynaud, Charles E. Schwartz, Stephen A. Wood, Jozef Gécz, Lachlan A. Jolly

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation 由 Sinitdhorn Rujirabanjerd, John W. Nelson, Patrick Tarpey, Anna Hackett, Sarah Edkins, F. Lucy Raymond, Charles E. Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    出版 2009
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2

    Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2 由 Rosalie E. Ferner, Adam Shaw, D. Gareth Evans, Dympna McAleer, Dorothy Halliday, Allyson Parry, F. Lucy Raymond, Juliette Durie-Gair, C. Oliver Hanemann, Rachel Hornigold, Patrick Axon, John F. Golding

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

    Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 由 Sinitdhorn Rujirabanjerd, John W. Nelson, Patrick Tarpey, Anna Hackett, Sarah Edkins, F. Lucy Raymond, Charles E. Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    出版 2012
    获取全文 获取全文
    Errata/Corrigenda
    加到收藏夹
    Saved in:
  14. 14
    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children 由 Courtney E. French, Isabelle Delon, Helen Dolling, Alba Sanchis‐Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo Garcia Branco, Helen V. Firth, David H. Rowitch, F. Lucy Raymond

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

    Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling 由 Kate Baker, Sarah L. Gordon, Detelina Grozeva, Margriet van Kogelenberg, Nicola Roberts, Michael Pike, Edward Blair, Matthew E. Hurles, W.K. Chong, Torsten Baldeweg, Manju A. Kurian, Stewart Boyd, Michael A. Cousin, F. Lucy Raymond

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 由 Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, Michael Parker, Hayley Archer, Helen V. Firth, Soo‐Mi Park, Natalie Canham, Susan Holder, Meredith Wilson, Anna Hackett, Michael Field, James Floyd, Matthew E. Hurles, F. Lucy Raymond

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  17. 17
    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data 由 Xiao Chen, Alba Sanchis‐Juan, Courtney E. French, Andrew J. Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L. Halpern, Ryan J. Taft, David Bentley, Matthew E.R. Butchbach, F. Lucy Raymond, Michael A. Eberle

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

    Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease 由 C. Geoffrey Woods, James J. Cox, Kelly Springell, Daniel J. Hampshire, Moin Mohamed, Martin McKibbin, Rowena Stern, F. Lucy Raymond, Richard Sandford, Saghira Malik Sharif, Gulshan Karbani, Mustaq Ahmed, Jacquelyn Bond, David Clayton, Chris F. Inglehearn

    出版 2006
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  19. 19
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum

    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum 由 Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie‐Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoît, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gécz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

    Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy 由 Renae Elaine Bertrand, Jun Wang, Kaitlyn Xiong, Chinthana Thangavel, Xinye Qian, Rola Ba‐Abbad, Qingnan Liang, Renata Toscano Simões, S. Sampaio, Keren Carss, F. Lucy Raymond, Anthony G. Robson, Andrew R. Webster, Gavin Arno, Fernanda Belga Ottoni Porto, Rui Chen

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: