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المؤلفون: Bethan Frugtniet, Emma Hudson, Sian Morgan, Anna Mullard, Amy Quinton, Claire Fuller, Louise Hanna, Alex Murray, Rachel Jones, Sheila Palmer-Smith, Rhian White
المصدر: BJOG: An International Journal of Obstetrics & Gynaecology. 129:433-442
مصطلحات موضوعية: Oncology, medicine.medical_specialty, education.field_of_study, endocrine system diseases, business.industry, Somatic cell, Population, Obstetrics and Gynecology, Genomics, medicine.disease, female genital diseases and pregnancy complications, Germline, Serous fluid, medicine.anatomical_structure, Internal medicine, Cohort, Medicine, skin and connective tissue diseases, business, Ovarian cancer, education, Fallopian tube
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المؤلفون: Andrew J Wallace, Diana Eccles, Lucy Side, Diana Baralle, Gail Norbury, Marc Tischkowitz, Helen Hanson, Rachel Robinson, D. Gareth Evans, George J Burghel, Cankut Çubuk, Alice Garrett, Treena Cranston, Sabrina Talukdar, Sheila Palmer-Smith, Emma R. Woodward, Alison Callaway, Fiona Lalloo, James Drummond, Ian R. Berry, Sian Ellard, Louise Izatt, Miranda Durkie, Clare Turnbull, Mary Alikian
المساهمون: Garrett, Alice [0000-0001-8942-283X], Burghel, George J [0000-0001-9360-8194], Berry, Ian R [0000-0002-9710-4724], Eccles, Diana M [0000-0002-9935-3169], Evans, D Gareth [0000-0002-8482-5784], Turnbull, Clare [0000-0002-1734-5772], Apollo - University of Cambridge Repository
المصدر: Journal of Medical Genetics
Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, GJ, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D & CanVIG-UK 2020, ' Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2019-106759مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Service (systems architecture), Subspecialty, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, Neoplasms, medicine, Cancer Genetics, Humans, genetics, guidelines, Genetic Testing, Genetics (clinical), business.industry, Interpretation (philosophy), Genetic Variation, High-Throughput Nucleotide Sequencing, Geneticist, Genomics, United Kingdom, Data sharing, 030104 developmental biology, 030220 oncology & carcinogenesis, Family medicine, molecular genetics, oncology, Medical genetics, Female, Personalized medicine, business, Psychology, Ireland, clinical genetics
وصف الملف: text; application/pdf; text/xml
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المؤلفون: Claire Forde, Emma Burkitt-Wright, Peter D. Turnpenny, Eric Haan, John Ealing, Sahar Mansour, Muriel Holder, Nayana Lahiri, Abhijit Dixit, Annie Procter, Laurence Pacot, Dominique Vidaud, Yline Capri, Marion Gerard, Hélène Dollfus, Elise Schaefer, Chloé Quelin, Sabine Sigaudy, Tiffany Busa, Gabriella Vera, Lena Damaj, Ludwine Messiaen, David A. Stevenson, Peter Davies, Sheila Palmer-Smith, Alison Callaway, Pierre Wolkenstein, Eric Pasmant, Meena Upadhyaya
المصدر: European journal of human genetics : EJHG. 30(3)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurofibroma, Neurofibromatosis 1, Cafe-au-Lait Spots, Genetics, Humans, Longitudinal Studies, Genetics (clinical), Genetic Association Studies
وصف الملف: application/pdf
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المؤلفون: Férechté Encha-Razavi, Sakkubai Naidu, Tania Attié-Bitach, Daniela T. Pilz, Neil Stoodley, Andrew E. Fry, Heather E. Olson, Jennifer Gardner, Sheila Palmer-Smith, Georgios Niotakis, Thomas D. Cushion, Julie S. Cohen, Hood Mugalaasi, Jonathan G. L. Mullins, Lucile Boutaud, Richard H Scott, Maryse Bonnières, P. Grant
المصدر: Brain Sciences, Vol 8, Iss 8, p 145 (2018)
Brain Sciences
Volume 8
Issue 8مصطلحات موضوعية: 0301 basic medicine, Microcephaly, cerebellar hypoplasia, TUBA1A, Context (language use), Biology, Corpus callosum, Article, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, Polymicrogyria, medicine, Missense mutation, polymicrogyria, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genetics, General Neuroscience, medicine.disease, Perisylvian polymicrogyria, tubulinopathy, p.(Arg2His), R2H, 030104 developmental biology, tubulin, Mutation (genetic algorithm), Cerebellar vermis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Andrew J Wallace, R. Best, Lisa Thompson, A. Davies, S. MacMohon, Sheila Palmer-Smith, Andrew R Clamp, D G R Evans, M Bulman, Gordon C Jayson, S. Ribeiro, Robert D. Morgan, B. Frugtniet
المصدر: Annals of Oncology. 30:v413
مصطلحات موضوعية: Oncology, medicine.medical_specialty, endocrine system diseases, business.industry, Cancer, Hematology, medicine.disease, Chemotherapy regimen, female genital diseases and pregnancy complications, Germline, Serous fluid, medicine.anatomical_structure, Ovarian carcinoma, Internal medicine, medicine, Progression-free survival, Ovarian cancer, business, Fallopian tube
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2cb527f49ca9e522eb5ac4d412eb328
https://doi.org/10.1093/annonc/mdz250.017 -
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المؤلفون: Andrew E. Fry, Wolfgang Berger, Laurette Morlé, Sheila Palmer-Smith, István Magyar, Jean-Christophe Zech, Veronique Nas, John Neidhardt, Moira J MacDonald, Barbara Kloeckener-Gruissem, Henri Plauchu
المساهمون: University of Zurich, Kloeckener-Gruissem, B
المصدر: European Journal of Human Genetics, 21, 3, pp. 352-6
European Journal of Human Genetics, 21, 352-6مصطلحات موضوعية: Male, 2716 Genetics (clinical), Eye Diseases, Short Report, 610 Medicine & health, Biology, medicine.disease_cause, Exon, chemistry.chemical_compound, 11124 Institute of Medical Molecular Genetics, Versicans, 1311 Genetics, Genetics, medicine, Humans, splice, Gene, Genetics (clinical), Mutation, Alternative splicing, RNA, Syndrome, Fibroblasts, Molecular biology, Pedigree, Alternative Splicing, chemistry, Chondroitin sulfate proteoglycan, 10076 Center for Integrative Human Physiology, biology.protein, Versican, 570 Life sciences, biology, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
وصف الملف: Novel_VCAN_mutations_and_evidence_for_unbalanced_alternative_splicing_in_the_pathogenesis_of_Wagner_syndrome.pdf - application/pdf
Find this article in full text from Springer Verlag.