المؤلفون: King, DA, Sifrim, A, Fitzgerald, TW, Rahbari, R, Hobson, E, Homfray, T, Mansour, S, Mehta, SG, Shehla, M, Tomkins, SE, Vasudevan, PC, Hurles, ME, Deciphering Developmental Disorders Study

وصف الملف: application/pdf

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المؤلفون: Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, O, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::f7e965552e3e58239ebce3944c5347a5
https://ora.ox.ac.uk/objects/uuid:77a37a71-bbd9-4226-9e31-f65ade6fc9d2

المؤلفون: Tomkins Se, B G Evans, John P. Harris, Ncube Fm, S Dougan

المصدر: International Journal of STD & AIDS. 15:619-622

مصطلحات موضوعية: Sexually transmitted disease, medicine.medical_specialty, Sexual transmission, business.industry, Public health, Public Health, Environmental and Occupational Health, virus diseases, Developing country, Dermatology, medicine.disease, law.invention, Infectious Diseases, Transmission (mechanics), Acquired immunodeficiency syndrome (AIDS), law, Family medicine, Epidemiology, Immunology, Health care, medicine, Pharmacology (medical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a178da63f3b3b55553d8773d39a79c74
https://doi.org/10.1258/0956462041724262

المؤلفون: Sharma, VP, Fenwick, AL, Brockop, MS, McGowan, SJ, Goos, JAC, Hoogeboom, AJM, Brady, AF, Jeelani, O, Lynch, SA, Mulliken, JB, Murray, DJ, Phipps, JM, Sweeney, E, Tomkins, SE, Wilson, LC, Bennett, S, Cornall, RJ, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, PJ, Mathijssen, IMJ, Maxson, RE, Twigg, SRF, Wilkie, AOM

المصدر: LANCET. 381

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::5d7fbbbd710bbe5cf64db4636f2945ba
http://ora.ox.ac.uk/objects/uuid:77a37a71-bbd9-4226-9e31-f65ade6fc9d2

المؤلفون: Sharma, VP, Fenwick, AL, Brockop, MS, McGowan, SJ, Goos, Jacqueline, Hoogeboom, Jeannette, Brady, AF, Jeelani, NO, Lynch, SA, Mulliken, JB, Murray, DJ, Phipps, JM, Sweeney, E, Tomkins, SE, Wilson, LC, Bennett, S, Cornall, RJ, Broxholme, J, Kanapin, A, Johnson, D, Wall, SA, van der Spek, Peter, Mathijssen, Irene, Maxson, RE, Twigg, SRF, Wilkie, AOM

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology

المصدر: Nature Genetics, 45(10), 1261-1261. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::3c378f73639266fba82ca9afa9d8a40a
https://pure.eur.nl/en/publications/d6818304-01e9-4cc2-8d39-d8df1a863353

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المؤلفون: Andrews KA; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Ascher DB; Department of Biochemistry, University of Cambridge, Cambridge, UK.; Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Victoria, Australia., Pires DEV; Department of Biochemistry, University of Cambridge, Cambridge, UK.; Instituto René Rachou, Fundação Oswaldo Cruz, Belo Horizonte, Brazil., Barnes DR; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Vialard L; West Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK., Casey RT; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Bradshaw N; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK., Adlard J; Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, UK., Aylwin S; Department of Endocrinology, King's College Hospital, London, UK., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Brewer C; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK., Cole T; West Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK., Cook JA; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Davidson R; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK., Donaldson A; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK., Fryer A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Greenhalgh L; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Hodgson SV; Department of Medical Genetics, St. George's University of London, London, UK., Irving R; Queen Elizabeth Medical Centre, Queen Elizabeth Hospital, Birmingham, UK., Lalloo F; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., McConachie M; East of Scotland Regional Genetics Service, Ninewells Hospital and Medical School, Dundee, UK., McConnell VPM; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK., Morrison PJ; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK., Murday V; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK., Park SM; Department of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Simpson HL; The Wolfson Diabetes and Endocrine Clinic, Institute of Metabolic Science, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Snape K; Department of Medical Genetics, St. George's University of London, London, UK., Stewart S; West Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK., Tomkins SE; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK., Wallis Y; West Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK., Izatt L; Department of Clinical Genetics, Guy's Hospital, London, UK., Goudie D; East of Scotland Regional Genetics Service, Ninewells Hospital and Medical School, Dundee, UK., Lindsay RS; Institute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, Scotland., Perry CG; Institute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, Scotland., Woodward ER; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Antoniou AC; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; The Wolfson Diabetes and Endocrine Clinic, Institute of Metabolic Science, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

المصدر: Journal of medical genetics [J Med Genet] 2018 Jun; Vol. 55 (6), pp. 384-394. Date of Electronic Publication: 2018 Jan 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Gland Neoplasms/*genetics , Membrane Proteins/*genetics , Paraganglioma/*genetics , Pheochromocytoma/*genetics , Succinate Dehydrogenase/*genetics, Adrenal Gland Neoplasms/pathology ; Age Factors ; Aged ; Aged, 80 and over ; Female ; Genetic Association Studies ; Genotype ; Germ-Line Mutation/genetics ; Heterozygote ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Mutation, Missense/genetics ; Paraganglioma/pathology ; Pheochromocytoma/pathology ; Risk Factors ; Sex Characteristics