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المؤلفون: Brandon Spencer Jackson, Daniel Montwedi, Maryke De Villiers
المصدر: BMJ Case Rep
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adrenal disorder, Adrenal Gland Neoplasms, 030209 endocrinology & metabolism, Case Report, Pheochromocytoma, 03 medical and health sciences, South Africa, 0302 clinical medicine, Adrenal Pheochromocytoma, medicine, Humans, In patient, Neurofibromatosis type I, business.industry, Rare entity, General Medicine, medicine.disease, African population, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25eb66e16cecc47edf0ff7fff0734e3cTest
https://pubmed.ncbi.nlm.nih.gov/33972293Test -
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المؤلفون: Kenneth Corsar, Bethany Cartwright
المصدر: BMJ Case Rep
مصطلحات موضوعية: 0301 basic medicine, Adult, Palate, Hard, medicine.medical_specialty, Neurofibromatosis 1, Case Report, 030105 genetics & heredity, Benign tumours, Malignant transformation, 03 medical and health sciences, 0302 clinical medicine, Peripheral nerve, medicine, Neurofibroma, Humans, Neurofibromatosis, business.industry, General Medicine, medicine.disease, medicine.anatomical_structure, Oral and maxillofacial surgery, Histopathology, Hard palate, Radiology, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b72a01384bd7122af1a4d2358146ce8Test
https://pubmed.ncbi.nlm.nih.gov/33827870Test -
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المؤلفون: David W. Stepp, Eric J. Belin de Chantemèle, James D. Mintz, Valerie Harris, Simone Kennard, Farlyn Z. Hudson, Tyler W. Benson, Weiqin Chen, Rebekah Tritz, Neal L. Weintraub, Gabor Csanyi, Hanfang Zhang, Brian K. Stansfield
المصدر: Transl Res
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Tumor suppressor gene, medicine.medical_treatment, Biology, Short stature, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Internal medicine, Diabetes mellitus, Genes, Neurofibromatosis 1, medicine, Animals, Humans, Neurofibromatosis, neoplasms, Anthropometry, Insulin, Leptin, Biochemistry (medical), Public Health, Environmental and Occupational Health, Wild type, General Medicine, medicine.disease, eye diseases, nervous system diseases, Mice, Inbred C57BL, 030104 developmental biology, Endocrinology, Gluconeogenesis, 030220 oncology & carcinogenesis, Insulin Resistance, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15eba8b4664cc1f975cd2f0ec647d9e7Test
https://doi.org/10.1016/j.trsl.2020.08.001Test -
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المؤلفون: Roope A. Kallionpää, Juha O. Rinne, Kari Auranen, Mikko Valtanen, Juha Peltonen, Sirkku Peltonen, Elina Uusitalo
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, 030105 genetics & heredity, Brief Communication, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Health care, medicine, Humans, Dementia, Registries, Neurofibromatosis, Genetics (clinical), business.industry, Incidence, Hazard ratio, medicine.disease, Confidence interval, Cohort, Female, Diagnosis code, Alzheimer's disease, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ef2224f7e7f817fbe1f15cbca890caTest
https://doi.org/10.1038/s41436-021-01261-3Test -
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المؤلفون: Kadri Murat Erdoğan, Müge Gürçınar, Ajlan Tükün, Semra Gürsoy, Filiz Hazan, Ünsal Yılmaz, Sultan Aydin Köker, Aycan Ünalp, Önder Kalenderer, Bengü Demirağ, Berk Ozyilmaz, Serkan Erkuş
المصدر: Neurological Sciences. 42:2045-2057
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurofibromatosis 1, Locus (genetics), Dermatology, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genes, Neurofibromatosis 1, medicine, Humans, Missense mutation, 030212 general & internal medicine, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Gene, Retrospective Studies, Sanger sequencing, Neurofibromin 1, business.industry, Brain, General Medicine, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Cerebellar vermis, symbols, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8fcabda371133c1522eefde902847aTest
https://doi.org/10.1007/s10072-020-04988-0Test -
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المؤلفون: Kaberi Feroze, Feroze Kaliyadan
المصدر: Indian Journal of Dermatology, Venereology and Leprology. 88:1-10
مصطلحات موضوعية: Optic Nerve Glioma, 0301 basic medicine, Neurofibromatosis 1, Tumor suppressor gene, Genetic enhancement, medicine.medical_treatment, Dermatology, Bioinformatics, medicine.disease_cause, Nerve Sheath Neoplasms, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Cognitive Dysfunction, Molecular Targeted Therapy, Neurofibromatosis, Protein kinase A, Fracture Healing, Neurofibroma, Plexiform, Mutation, biology, business.industry, medicine.disease, Neurofibromin 1, 030104 developmental biology, Infectious Diseases, 030220 oncology & carcinogenesis, biology.protein, business, Tyrosine kinase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53292dc01725fdde78650f9ac4d139edTest
https://doi.org/10.25259/ijdvl_6_2020Test -
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المؤلفون: David G. Little, Aaron Schindeler, Nikita Deo, Justin D. Bobyn
المصدر: Journal of Orthopaedic Science. 26:684-689
مصطلحات موضوعية: Neurofibromatosis 1, medicine.medical_treatment, Context (language use), Zoledronic Acid, Bone morphogenetic protein 2, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Orthopedics and Sports Medicine, Neurofibromatosis, Mitogen-Activated Protein Kinase Kinases, 030222 orthopedics, business.industry, MEK inhibitor, Diphenylamine, Bisphosphonate, medicine.disease, Resorption, Disease Models, Animal, Zoledronic acid, Benzamides, Adjunctive treatment, Cancer research, Surgery, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec170d2fc3517f0219f318766075620Test
https://doi.org/10.1016/j.jos.2020.05.016Test -
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المؤلفون: William J. Logan, Matsanga Leyila Kaseka, Gabrielle deVeber, Nomazulu Dlamini, Suzan Williams, Mahmoud Slim, Mahendranath Moharir, Ishvinder Bhathal, Prakash Muthusami, Elizabeth Pulcine, Andrea Kassner, Manohar Shroff, Robyn Westmacott, Peter B. Dirks, Daune MacGregor
المصدر: Pediatric Neurology. 120:18-26
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Anemia, Sickle Cell, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Outcome Assessment, Health Care, Humans, Medicine, Pediatric stroke, Cognitive Dysfunction, Moyamoya disease, Neurofibromatosis, Child, Stroke, business.industry, organic chemicals, fungi, Hazard ratio, Odds ratio, medicine.disease, Phenotype, Neurology, Ischemic Attack, Transient, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Etiology, Female, Neurology (clinical), Moyamoya Disease, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55b18525923f94783836a0370784fc43Test
https://doi.org/10.1016/j.pediatrneurol.2021.03.002Test -
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المؤلفون: Kwangmin Choi, Robert A. Coover, Nancy Ratner, Tilat A. Rizvi, Melissa R. Perrino, Katherine E. Chaney, Jay Pundavela, David A. Largaespada, Craig S. Thomson
المصدر: Oncogene
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cell signaling, Neurofibromatosis 1, Stromal cell, Malignant peripheral nerve sheath tumor, Biology, Article, Nerve Sheath Neoplasms, Wnt-5a Protein, Extracellular matrix, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Cell Line, Tumor, Tumor Microenvironment, Genetics, medicine, Humans, RNA, Messenger, RNA, Small Interfering, Molecular Biology, Cell Proliferation, Oncogene, Cell growth, Wnt signaling pathway, medicine.disease, Extracellular Matrix, body regions, 030104 developmental biology, Neurofibrosarcoma, Cell culture, 030220 oncology & carcinogenesis, Cancer research, Schwann Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72f552363c255a405fa98cecbacaabfeTest
https://doi.org/10.1038/s41388-021-01773-xTest -
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المؤلفون: Wingfield Rehmus, Walter J. Duncan, Rebecca Ronsley, Shahrad Rod Rassekh, Arvindera Ghag, Jane Gardiner, Celine D Hounjet, Juliette Hukin, Michael A. Sargent, Sylvia Cheng, Christopher Dunham, Jeffrey P. Ludemann, David Wensley
المصدر: Cancer Medicine, Vol 10, Iss 11, Pp 3556-3564 (2021)
Cancer Medicineمصطلحات موضوعية: 0301 basic medicine, Compassionate Use Trials, Male, Cancer Research, Pediatrics, 0302 clinical medicine, Child, Paronychia, RC254-282, Original Research, Trametinib, trametinib, Treatment refractory, Brain Neoplasms, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Glioma, Treatment Outcome, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Female, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Pyridones, Antineoplastic Agents, Pyrimidinones, low‐grade glioma, Dermatitis, Atopic, 03 medical and health sciences, Refractory, medicine, Humans, Radiology, Nuclear Medicine and imaging, Neurofibromatosis, Adverse effect, Retrospective Studies, Neurofibroma, Plexiform, neurofibromatosis, British Columbia, business.industry, Clinical Cancer Research, Infant, medicine.disease, Clinical trial, 030104 developmental biology, pediatric, Drug Resistance, Neoplasm, Low-Grade Glioma, business, plexiform neurofibroma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d333357b921c7aa583670e75af6fc69Test
https://doaj.org/article/778056853ba44d84ae5379fbb35ac161Test