نتائج البحث - "Chris Duff"

1

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

المصدر: English Specialist NF research group 2019, ' Incidence of mosaicism in 1055 de novo NF2 cases: Much higher than previous estimates with high utility of Next Generation Sequencing. ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0598-7

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf947c2aee5b8ac14ebd0ccad711d6ea
https://doi.org/10.1038/s41436-019-0598-7

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2

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

المؤلفون: Patrick Shenjere, Richard W. Whitehouse, Naomi L. Bowers, James P Wylie, Judith Eelloo, Noel W. Clarke, Miriam J. Smith, D. Gareth Evans, Anthony J. Freemont, Chris Duff, Calvin Soh, Paul Hulse, John Ealing, Mark Jones

المصدر: Eelloo, J, Smith, M J, Bowers, N, Ealing, J, Hulse, P, Wylie, J, Shenjere, P, Clarke, N, Soh, C, Whitehouse, R, Jones, M, Duff, C J, Freemont, T & Evans, D G 2019, ' Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant ', Familial Cancer . https://doi.org/10.1007/s10689-019-00138-4

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.medical_specialty, Horner Syndrome, Skin Neoplasms, Neurofibromatoses, SMARCB1, 030105 genetics & heredity, Schwannoma, Follicular lymphoma, Neoplasms, Multiple Primary, Lesion, 03 medical and health sciences, 0302 clinical medicine, MPNST, Biopsy, Genetics, Atypia, Humans, Medicine, Neurofibroma, Retroperitoneal Neoplasms, Neurofibromatosis, Schwannomatosis, Genetics (clinical), medicine.diagnostic_test, business.industry, Malignancy, SMARCB1 Protein, Middle Aged, medicine.disease, Abdominal mass, Neurofibromatosis type 2, Oncology, Neurofibrosarcoma, 030220 oncology & carcinogenesis, Female, Radiology, medicine.symptom, Hemangioma, business, Neurilemmoma, Neurofibromatosis type 1

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9808eabe966e67c37c5ed86b9d507cf4
https://doi.org/10.1007/s10689-019-00138-4

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3

Schwannomatosis: a genetic and epidemiological study

المصدر: Evans, D G, Bowers, N L, Tobi, S, Hartley, C, Wallace, A J, King, A T, Lloyd, S K W, Rutherford, S A, Hammerbeck-Ward, C, Pathmanaban, O N, Freeman, S R, Ealing, J, Kellett, M, Laitt, R, Thomas, O, Halliday, D, Ferner, R, Taylor, A, Duff, C, Harkness, E F & Smith, M J 2018, ' Schwannomatosis: a genetic and epidemiological study ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, no. 11, pp. 1215-1219 . https://doi.org/10.1136/jnnp-2018-318538

مصطلحات موضوعية: Adult, Male, Neurofibromatosis 2, Pediatrics, medicine.medical_specialty, Skin Neoplasms, Adolescent, Databases, Factual, Neurofibromatoses, Population, Prevalence, SMARCB1, Young Adult, 03 medical and health sciences, 0302 clinical medicine, vestibular schwannoma, Epidemiology, otorhinolaryngologic diseases, medicine, Humans, education, Schwannomatosis, Aged, Aged, 80 and over, schwannomatosis, Neurofibromin 2, education.field_of_study, business.industry, Incidence, Incidence (epidemiology), Mean age, SMARCB1 Protein, Middle Aged, medicine.disease, Psychiatry and Mental health, England, 030220 oncology & carcinogenesis, Life expectancy, Female, Surgery, Neurology (clinical), LZTR1, business, Neurilemmoma, 030217 neurology & neurosurgery, Transcription Factors