Zobrazeno 1 - 10
of 19
pro vyhledávání: '"RAYMOND LF"'
Autor:
Khan, KN, Robson, A, Mahroo, OAR, Arno, G, Inglehearn, CF, Armengol, M, Waseem, N, Holder, GE, Carss, KJ, Raymond, LF, Webster, AR, Moore, AT, McKibbin, M, Van Genderen, MM, Poulter, JA, Michaelides, M
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype–phenotype correlations are curren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c8eb6985de134ac5029418915decaeb6
https://eprints.whiterose.ac.uk/127199/1/s41431-017-0082-2.pdf
https://eprints.whiterose.ac.uk/127199/1/s41431-017-0082-2.pdf
Autor:
Steel D; Molecular Neurosciences, Developmental Neurosciences, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Heim J; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA., Kruer MC; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Department of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, United Kingdom., Raymond LF; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, United Kingdom.; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Eunson P; Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh, Scotland., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Feb; Vol. 35 (2), pp. 372-373. Date of Electronic Publication: 2020 Jan 10.
Autor:
Khan KN; University College London Institute of Ophthalmology, University College London, London, UK. medknk@leeds.ac.uk.; Inherited Eye Disease Service, Moorfields Eye Hospital, London, UK. medknk@leeds.ac.uk.; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK. medknk@leeds.ac.uk.; Department of Ophthalmology, St. James's University Teaching Hospital, Leeds, UK. medknk@leeds.ac.uk., Robson A; Department of Electrophysiology, Moorfields Eye Hospital, London, UK., Mahroo OAR; University College London Institute of Ophthalmology, University College London, London, UK.; Inherited Eye Disease Service, Moorfields Eye Hospital, London, UK., Arno G; University College London Institute of Ophthalmology, University College London, London, UK., Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK., Armengol M; Inherited Eye Disease Service, Moorfields Eye Hospital, London, UK., Waseem N; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK., Holder GE; Department of Electrophysiology, Moorfields Eye Hospital, London, UK., Carss KJ; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, CB2 0PT, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK., Raymond LF; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, CB2 0PT, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK., Webster AR; University College London Institute of Ophthalmology, University College London, London, UK.; Inherited Eye Disease Service, Moorfields Eye Hospital, London, UK., Moore AT; University College London Institute of Ophthalmology, University College London, London, UK.; Inherited Eye Disease Service, Moorfields Eye Hospital, London, UK.; Ophthalmology Department, University of California San Francisco Medical School, San Francisco, CA, USA., McKibbin M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK.; Department of Ophthalmology, St. James's University Teaching Hospital, Leeds, UK., van Genderen MM; Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Poulter JA; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK., Michaelides M; University College London Institute of Ophthalmology, University College London, London, UK.; Inherited Eye Disease Service, Moorfields Eye Hospital, London, UK.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 May; Vol. 26 (5), pp. 687-694. Date of Electronic Publication: 2018 Feb 01.
Autor:
Chaudhry A; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Noor A; Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Degagne B; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Baker K; Department of Medical Genetics, Cambridge, UK.; Institute for Medical Research Wellcome Trust, University of Cambridge, Cambridge, UK., Bok LA; Department of Clinical Genetics, Unit of Cytogenetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chung BH; Department of Pediatrics and Adolescent Medicine, Department of Obstetrics and Gynaecology, Centre for Reproduction, Development and Growth, Centre for Genomic Sciences, The University of Hong Kong, Pok Fu Lam, Hong Kong., Cytrynbaum C; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Dyment D; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Filges I; Division of Medical Genetics, Department of Biomedicine, University Hospital Basel, Basel, Switzerland., Helm B; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters/Eastern Virginia Medical School, Norfolk, VA, USA., Hutchison HT; Departments of Neurology and Pediatrics, UCSF Fresno Medical Education Program, San Francisco, CA, USA., Jeng LJ; Department of Laboratory Medicine, University of California, San Francisco, CA, USA., Laumonnier F; UMR_INSERM U930 Faculté de Médecine, Université François Rabelais, Tours, France., Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Menzel M; CeGaT GmbH, Tuebingen, Germany., Parkash S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Dalhousie University Halifax, Nova Scotia, Canada., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield, UK., Raymond LF; Department of Medical Genetics, Cambridge, UK.; Institute for Medical Research Wellcome Trust, University of Cambridge, Cambridge, UK., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Roberts W; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada., Rupps R; Department of Medical Genetics, Children's and Women's Health Centre, University of British Columbia, Vancouver, BC, Canada., Schanze I; Institute of Human Genetics, University Hospital Magedeburg, Magedeburg, Germany., Schrander-Stumpel CT; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands., Speevak MD; Credit Valley Site, Trillium Health Partners, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Onatario, Canada., Stavropoulos DJ; Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Stevens SJ; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands., Thomas ER; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK., Toutain A; UMR_INSERM U930 Faculté de Médecine, Université François Rabelais, Tours, France.; Service de Génétique, Centre Hospitalo-Universitaire, Tours, France., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters/Eastern Virginia Medical School, Norfolk, VA, USA., Weksberg R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, Toronto, Ontario, Canada.; McLaughlin Centre and Department of Molecular Genetics, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, Toronto, Ontario, Canada.; McLaughlin Centre and Department of Molecular Genetics, Toronto, Ontario, Canada., Vincent JB; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Institute of Medical Science, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada., Carter MT; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.
Publikováno v:
Clinical genetics [Clin Genet] 2015 Sep; Vol. 88 (3), pp. 224-33. Date of Electronic Publication: 2014 Oct 14.
Autor:
Kaye J; Nuffield Department of Population Health, HeLEX - Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford, UK., Hurles M; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Griffin H; Nuffield Department of Population Health, HeLEX - Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford, UK., Grewal J; CELLS - Centre for Ethics and Law in the Life Sciences, Institute of Philosophy, Leibniz Universitaet Hannover, Hannover, Germany., Bobrow M; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Timpson N; MRC CAiTE Centre, School of Social and Community Medicine, University of Bristol, Oakfield House, Clifton, Bristol, UK., Smee C; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Bolton P; Institute of Psychiatry, Kings College London, London, UK., Durbin R; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Dyke S; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Fitzpatrick D; MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK., Kennedy K; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Kent A; Genetic Alliance UK, London, UK., Muddyman D; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK., Raymond LF; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Semple R; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Spector T; Department of Twin Research, King's College London, St Thomas' Hospital, London, UK.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Sep; Vol. 22 (9), pp. 1100-4. Date of Electronic Publication: 2014 Jan 15.
Autor:
Raymond LF
Publikováno v:
Annals of ophthalmology [Ann Ophthalmol] 1975 Apr; Vol. 7 (4), pp. 532-4.
Autor:
RAYMOND LF
Publikováno v:
American journal of ophthalmology [Am J Ophthalmol] 1959 Dec; Vol. 48, pp. 846-7.
Autor:
RAYMOND LF
Publikováno v:
The Journal of the Medical Society of New Jersey [J Med Soc N J] 1963 Sep; Vol. 60, pp. 417-9.
Autor:
RAYMOND LF, GOODMAN R 2nd
Publikováno v:
The Journal of the Medical Society of New Jersey [J Med Soc N J] 1957 Mar; Vol. 54 (3), pp. 101-4.