المؤلفون: Michael Laffan, Peter Lunt, Steve Keeney, Megan Sutherland, Nikki Curry, Keith Gomez

المصدر: Haemophilia. 25:116-126

مصطلحات موضوعية: 030204 cardiovascular system & hematology, GUIDELINES, PHENOTYPE, Presentation, 0302 clinical medicine, SEQUENCE VARIANTS, MUTATION, Genetics (clinical), media_common, genetic interpretation, medicine.diagnostic_test, ORIGIN, Mosaicism, Uncertainty, Hematology, General Medicine, CARRIERS, Pedigree, Breath Tests, consent for genetic testing, Life Sciences & Biomedicine, medicine.medical_specialty, Genotype, media_common.quotation_subject, education, inherited bleeding disorders, clinical genetic testing, Haemophilia, 03 medical and health sciences, Blood Coagulation Disorders, Inherited, genetic reporting, medicine, Humans, Genetic Testing, Good practice, Genetic testing, Chromosome Aberrations, Science & Technology, Health professionals, business.industry, Interpretation (philosophy), Genetic variants, 1103 Clinical Sciences, Pathogenicity, medicine.disease, United Kingdom, Cardiovascular System & Hematology, Family medicine, business, sequence variant terminology, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820243f5d8806931285d6b1a206cf789Test
https://doi.org/10.1111/hae.13637Test

المؤلفون: Gomez, Keith, Laffan, Mike, Keeney, Steve, Sutherland, Megan, Curry, Nikki, Lunt, Peter

المصدر: Gomez , K , Laffan , M , Keeney , S , Sutherland , M , Curry , N & Lunt , P 2019 , ' Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper ' , Haemophilia , vol. 25 , no. 1 , pp. 116-126 . https://doi.org/10.1111/hae.13637Test

مصطلحات موضوعية: clinical genetic testing, consent for genetic testing, genetic interpretation, genetic reporting, inherited bleeding disorders, sequence variant terminology

العلاقة: https://research-information.bris.ac.uk/en/publications/144250cb-dd02-4880-9e4e-0a0479817bd1Test

الإتاحة: https://doi.org/10.1111/hae.13637Test
https://hdl.handle.net/1983/144250cb-dd02-4880-9e4e-0a0479817bd1Test
https://research-information.bris.ac.uk/en/publications/144250cb-dd02-4880-9e4e-0a0479817bd1Test
http://www.scopus.com/inward/record.url?scp=85060205115&partnerID=8YFLogxKTest

المؤلفون: Gomez, K, Laffan, M, Keeney, S, Sutherland, M, Curry, N, Lunt, P

المصدر: 126 ; 116

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Hematology, clinical genetic testing, consent for genetic testing, genetic interpretation, genetic reporting, inherited bleeding disorders, sequence variant terminology, SEQUENCE VARIANTS, MUTATION, ORIGIN, GUIDELINES, PHENOTYPE, CARRIERS, Blood Coagulation Disorders, Inherited, Breath Tests, Chromosome Aberrations, Genetic Testing, Genotype, Humans, Mosaicism, Pedigree, Uncertainty, United Kingdom

العلاقة: Haemophilia; http://hdl.handle.net/10044/1/75808Test

الإتاحة: https://doi.org/10.1111/hae.13637Test
http://hdl.handle.net/10044/1/75808Test