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المؤلفون: Muhammad Fahad Arshad, Sabapathy P. Balasubramanian, Richard Eastell, Edmund Rab, Jacqueline Cook, James McAllister, Azhar Merchant
المصدر: Postgraduate medical journal. 97(1151)
مصطلحات موضوعية: Male, medicine.medical_specialty, endocrine system diseases, Demographics, Urinary system, 030209 endocrinology & metabolism, 03 medical and health sciences, 0302 clinical medicine, Electronic records, Internal medicine, medicine, Humans, In patient, Familial hypocalciuric hypercalcaemia, 030304 developmental biology, Aged, 0303 health sciences, business.industry, Reproducibility of Results, General Medicine, Middle Aged, medicine.disease, Hyperparathyroidism, Primary, Urinary calcium, Treatment Outcome, Case-Control Studies, Hypercalcemia, Calcium, Female, Differential diagnosis, business, Primary hyperparathyroidism
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المؤلفون: Jacqueline Cook, Richard Eastell, Azhar Merchant, Edmund Rab, Muhammad Fahad Arshad, James McAllister, Saba P. Balasubramanian
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: medicine.medical_specialty, endocrine system diseases, business.industry, Bone and Mineral Metabolism, Endocrinology, Diabetes and Metabolism, medicine.disease, Gastroenterology, Urinary calcium, Internal medicine, medicine, Parathyroid Hormone: Clinical Disorders and Basic Insights, Familial hypocalciuric hypercalcaemia, business, Primary hyperparathyroidism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65adafe81bf05927e3fff15e3ab77188
https://doi.org/10.1210/js.2019-mon-532 -
3دورية أكاديمية
المؤلفون: Jacqueline Cooke, Praneeth Ranga, Jani Jesenovec, John S. McCloy, Sriram Krishnamoorthy, Michael A. Scarpulla, Berardi Sensale-Rodriguez
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المؤلفون: Ignacio Blanco, Heli Nevanlinna, Norbert Arnold, Gad Rennert, Catherine Noguès, Javier Benitez, Etienne Rouleau, Embrace, Gemo, Irene Konstantopoulou, David J. Hughes, Flavio Lejbkowicz, kConFab, Rita K. Schmutzler, Mercedes Durán, Carole Brewer, Beatrix Versmold, Georgia Chenevix-Trench, Paolo Radice, Trevor Cole, Alfons Meindl, Ivan Bièche, Rosalind A. Eeles, Isabelle Coupier, Olga M. Sinilnikova, Hebon, A L Laborde, Florence Coulet, Kristiina Aittomäki, M. Cook, Ana Osorio, D. G. Evans, Dieter Schaefer, S. Giraud, Craig Luccarini, Jacques Simard, Hans J. J. P. Gille, Fiona Lalloo, Liliane Demange, Xiaoqing Chen, Florent Soubrier, Susan Peock, Amanda B. Spurdle, Rosemarie Davidson, Lesley McGuffog, T. A. M. van Os, Henry T. Lynch, Jacqueline Cook, Ursula G. Froster, Douglas F. Easton, Sara Dishon, Siranoush Manoukian, Christian Sutter, Gabriella Pichert, Frans B. L. Hogervorst, Mélanie Léoné, Jonathan Beesley, Katherine L. Nathanson, Rosette Lidereau, Sue Healey, Daniel Sinnett, Gc-Hboc, Christoph Engel, Joan Paterson, Chrystelle Colas, Mark H. Greene, U Hamann, Dominique Stoppa-Lyonnet, Ocgn, Irene L. Andrulis, Helmut Deissler, Jennifer T. Loud, A C Antoniou, Susan M. Domchek
المساهمون: Universitat de Barcelona, Human genetics, CCA - Oncogenesis
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Recercat. Dipósit de la Recerca de Catalunya
British Journal of Cancer
Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Leone, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Duran, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, J J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bieche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomaki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G & Stoppa-Lyonnet, D 2009, ' The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', British Journal of Cancer, vol. 101, no. 8, pp. 1456-1460 . https://doi.org/10.1038/sj.bjc.6605279
British Journal of Cancer, 101(8), 1456-1460. Nature Publishing Groupمصطلحات موضوعية: Oncology, Cancer Research, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, polymorphism, 0302 clinical medicine, Breast cancer, Risk Factors, Genotype, TP53, skin and connective tissue diseases, risk, 0303 health sciences, Nucleotides, Hazard ratio, Proto-Oncogene Proteins c-mdm2, 3. Good health, 030220 oncology & carcinogenesis, Female, Breast disease, medicine.medical_specialty, Heterozygote, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Càncer de mama, 03 medical and health sciences, breast cancer, MDM2, BRCA1/2, Internal medicine, medicine, Genetics, SNP, Humans, Genetic Predisposition to Disease, neoplasms, 030304 developmental biology, Proportional hazards model, Mutació (Biologia), Cancer, Genetics and Genomics, Mutation (Biology), medicine.disease, Genes, p53, Nucleòtids, Mutation, Cancer research, Genètica
وصف الملف: application/pdf
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المؤلفون: Valerie N. Babinsky, John A. McKnight, Detlef Bockenhauer, M Andrew Nesbit, Angela Rogers, Rajesh Thakker, Isabelle Scheers, Ken Darzy, Simon H. S. Pearce, Patrick J. Morrison, Sarah Ehtisham, Una Graham, Malachi J. McKenna, Treena Cranston, Dhavendra Kumar, Sarah A. Howles, Tristan Richardson, Fadil Hannan, Clare E Thakker, Rosalind S. Brown, Jacqueline Cook, Anita A C Reed, Tony Hulse, Michael P. Whyte, Timothy Wang, Steven Hunter, Zulf Mughal
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: medicine.medical_specialty, Cinacalcet, Endocrinology, Sigma Subunit, business.industry, Internal medicine, Medicine, Signal transducing adaptor protein, Familial hypocalciuric hypercalcaemia, business, Genotype-Phenotype Correlations, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e49928f9b2b220d3c35a3b1a3e8dacb
https://doi.org/10.1530/endoabs.34.p14 -
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المؤلفون: L. Brooks, Patrick J. Morrison, Stanley W. Ashley, Diana Eccles, Maggie Watson, J Mackay, R. Davidson, Trevor Cole, Rosalind A. Eeles, Jacqueline Cook, Claire Foster, Helen Gregory, D G R Evans
المصدر: Genetic testing. 8(1)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Genetic counseling, media_common.quotation_subject, Population, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Breast cancer, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Psychiatry, education, Genetics (clinical), Genetic testing, media_common, Aged, Aged, 80 and over, education.field_of_study, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Test (assessment), Cohort, Female, Worry, business, Psychosocial, Clinical psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c180c5b800c08d80f79ac4ee85c770
https://pubmed.ncbi.nlm.nih.gov/15140371