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1دورية أكاديمية
المؤلفون: Stefanie Parisien-La Salle, Nadine Dumas, Geneviève Rondeau, Mathieu Latour, Isabelle Bourdeau
المصدر: Frontiers in Endocrinology, Vol 10 (2019)
مصطلحات موضوعية: neurofibromatosis, deletion, phenotype, pheochromocytoma, hypertension, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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المؤلفون: Stefanie Parisien-La Salle, Frédéric Mercier, Gilles Corbeil, Nadine Dumas, Franck Vandenbroucke-Menu, Hugues Widmer, Bich Ngoc Nguyen, Mathieu Latour, Isabelle Bourdeau
المصدر: Journal of the Endocrine Society. 6:A63-A64
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::467c5d26ebb96bf687f8b913c2f6a617
https://doi.org/10.1210/jendso/bvac150.130 -
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المؤلفون: Nadine Dumas, Karine Bédard, Judith Jolin, Jessica Moramarco, Isabelle Bourdeau, André Lacroix, Stefanie Parisien-La Salle, Nelly Burnichon, Isabelle Lévesque, Anne-Paule Gimenez-Roqueplo
المصدر: Clinical endocrinologyREFERENCES. 96(6)
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Canada, SDHB, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, Pheochromocytoma, medicine.disease_cause, Genetic analysis, Paraganglioma, symbols.namesake, Endocrinology, Germline mutation, Internal medicine, Medicine, Humans, Germ-Line Mutation, Genetic testing, Sanger sequencing, Mutation, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Succinate Dehydrogenase, symbols, SDHD, business
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4
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: medicine.medical_specialty, Aldosterone, business.industry, Adrenal - Hypertension, Endocrinology, Diabetes and Metabolism, Germline, chemistry.chemical_compound, Familial case, Endocrinology, chemistry, Internal medicine, Macronodular Adrenal Hyperplasia, medicine, Identification (biology), Adrenal, business, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470cca61fb8547423fda21bfb6af5db9
http://europepmc.org/articles/PMC7207741 -
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المؤلفون: Anne-Paule Gimenez-Roqueplo, Serge Nolet, Nelly Burnichon, André Lacroix, Isabelle Lévesque, Judith Jolin, Stefanie Parisien-La Salle, Isabelle Bourdeau, Nadine Dumas
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Genetics, Mutation rate, Germline mutation, Adrenal - Hypertension, Endocrinology, Diabetes and Metabolism, Cohort, Adrenal, Biology, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2fcb85d9b85817706c33b91f02f235
https://doi.org/10.1210/jendso/bvaa046.453 -
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المؤلفون: Isabelle Lévesque, Jessica Moramarco, Stefanie Parisien-La Salle, Isabelle Bourdeau, Nadine Dumas, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Karine Bédard, Judith Jolin, André Lacroix
المصدر: Canadian Journal of Diabetes. 45:S19
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Cohort, Internal Medicine, Medicine, General Medicine, business
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7
المؤلفون: Serge Nolet, Emmanuel Khalifa, Isabelle Bourdeau, Nelly Burnichon, Solange Grunenwald, Anne-Paule Gimenez-Roqueplo, Nadine Dumas, Marie-Claire Binet
المصدر: The Journal of Clinical Endocrinology and Metabolism
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Canada, SDHB, Endocrinology, Diabetes and Metabolism, Genetic counseling, Clinical Biochemistry, Nonsense mutation, 030209 endocrinology & metabolism, Biochemistry, Paraganglioma, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Germline mutation, medicine, Humans, Genetic testing, Aged, Genetics, Aged, 80 and over, medicine.diagnostic_test, business.industry, Biochemistry (medical), Membrane Proteins, Original Articles, Middle Aged, Pedigree, 030104 developmental biology, Head and Neck Neoplasms, Mutation (genetic algorithm), Mutation, Female, SDHD, France, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee46afcc81543d5ad74211f866936178
http://europepmc.org/articles/PMC5155677 -
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المؤلفون: Serge Nolet, Zaki El-Haffaf, Nelly Burnichon, Jessica Moramarco, André Lacroix, Pavel Hamet, Nadine Dumas, Luce Boulanger, Nada El Ghorayeb, Anne-Paule Gimenez Roqueplo, Isabelle Bourdeau
المصدر: Clinical endocrinology. 86(3)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Neurofibromatosis 1, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, 030209 endocrinology & metabolism, Multiple endocrine neoplasia type 2, Pheochromocytoma, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Family history, Neurofibromatosis, Germ-Line Mutation, Retrospective Studies, business.industry, Age Factors, Retrospective cohort study, Metanephrines, Middle Aged, medicine.disease, 030220 oncology & carcinogenesis, Cohort, business, Cohort study
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9
المؤلفون: Sarah Dyack, Mark Ludman, Michele Gaudet, Nadine Dumas, Barbara Morash, Jo-Ann K. Brock
المصدر: American Journal of Medical Genetics Part A. :406-411
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Developmental Disabilities, Marker chromosome, Karyotype, Isochromosome, Biology, Genetics, medicine, Humans, Child, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics (clinical), Mosaicism, Chromosome, Fibroblasts, medicine.disease, Hypotonia, Chromosome Banding, Isochromosomes, Tetrasomy, Chromosome abnormality, Chromosomes, Human, Pair 5, medicine.symptom, Hydrocephalus, Ventriculomegaly
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10
المؤلفون: Sonia Nizard, Daniel Sinnett, Marie-José Clermont, Amelie Rioux, Gale Stewart, Nadine Dumas, Linda Furlini, Jean-Marie Therrien, Michèle Marchand, Geneviève Cardinal, Nathalie Bolduc, Adrian Thorogood, Emily Kirby, Claudine Fecteau, Hugues Létourneau, Ma'n H. Zawati, Pavel Hamet, Shant Der Sarkissian, Sabrina Fortin, Karine Sénécal, Guillaume Sillon, Martin Hetu, Gurit Lotan, Zaki El Haffaf, Stéphanie Côté
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: Clinical Practice, Chose, Health professionals, Emerging technologies, Political science, Ethics committee, Library science, Face (sociological concept), Rapid detection
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::204a0d287aa0b4d66d368880614bfe0a
https://doi.org/10.2139/ssrn.2634657