Search Results - Raymond, F. Lucy

Refine Results
  1. 1
    Lessons learnt from large-scale exon re-sequencing of the X chromosome

    Lessons learnt from large-scale exon re-sequencing of the X chromosome by Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef

    Published 2009
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability

    Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability by Bathelt, Joe, Astle, Duncan, Barnes, Jessica, Raymond, F. Lucy, Baker, Kate

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin

    Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin by Bathelt, Joe, Barnes, Jessica, Raymond, F Lucy, Baker, Kate, Astle, Duncan

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study

    Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study by Baker, Kate, Scerif, Gaia, Astle, Duncan E, Fletcher, Paul C, Raymond, F Lucy

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    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 by Farmer, George D., Gray, Harry, Chandratillake, Gemma, Raymond, F Lucy, Freeman, Alexandra L. J.

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

    Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements by Whibley, Annabel, Urquhart, Jill, Dore, Jonathan, Willatt, Lionel, Parkin, Georgina, Gaunt, Lorraine, Black, Graeme, Donnai, Dian, Raymond, F Lucy

    Published 2010
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations

    Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations by Baker, Kate, Astle, Duncan E, Scerif, Gaia, Barnes, Jessica, Smith, Jennie, Moffat, Georgina, Gillard, Jonathan, Baldeweg, Torsten, Raymond, F Lucy

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

    Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion by Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    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 by Kerzendorfer, Claudia, Whibley, Annabel, Carpenter, Gillian, Outwin, Emily, Chiang, Shih-Chieh, Turner, Gillian, Schwartz, Charles, El-Khamisy, Sherif, Raymond, F. Lucy, O'Driscoll, Mark

    Published 2010
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

    Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability by Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  11. 11
    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 by Green, Peter, Wiseman, Matthew, Crow, Yanick J., Houlden, Henry, Riphagen, Shelley, Lin, Jean-Pierre, Raymond, F. Lucy, Childs, Anne-Marie, Sheridan, Eamonn, Edwards, Sian, Josifova, Dragana J.

    Published 2010
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  12. 12
    Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

    Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate by Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    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 by Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  14. 14
    SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

    SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance by Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    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 by Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

    Published 2010
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  16. 16
    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 by Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

    Published 2012
    Get full text Get full text
    Text
    Save to List
    Saved in:
  17. 17
    Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

    Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability by Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., van Loon, Barbara

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

    Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability by Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., Loon, Barbara van

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

    Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy by Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.

    Published 2008
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  20. 20
    Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: