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المؤلفون: Belen Garcia, Nuria Catasus, Andrea Ros, Inma Rosas, Alejandro Negro, Mercedes Guerrero-Murillo, Ana Maria Valero, Anna Duat-Rodriguez, Juan Luis Becerra, Sandra Bonache, Conxi Lázaro Garcia, Carmina Comas, Isabel Bielsa, Eduard Serra, Concepción Hernández-Chico, Yolanda Martin, Elisabeth Castellanos, Ignacio Blanco
المصدر: Journal of Medical Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Neurofibromin 1, Genes, Neurofibromatosis 1, Genetics, Humans, Genetic Counseling, Genetic Testing, neoplasms, eye diseases, Genetics (clinical), nervous system diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5930e8a98b7ff8147053e35cba8a2975Test
https://doi.org/10.1136/jmedgenet-2021-108301Test -
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المؤلفون: Hildegard Kehrer-Sawatzki, David N. Cooper
المصدر: Human Genetics. 141:177-191
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Brain Neoplasms, Mosaicism, Cafe-au-Lait Spots, Infant, Newborn, Genetic Variation, Infant, eye diseases, nervous system diseases, Diagnosis, Differential, Neoplastic Syndromes, Hereditary, Child, Preschool, Genes, Neurofibromatosis 1, Genetics, Humans, Female, Child, Colorectal Neoplasms, neoplasms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed48a4acf5e42cb4613f3b5c33aa1315Test
https://doi.org/10.1007/s00439-021-02410-zTest -
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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: Rebekah Tritz, Farlyn Z. Hudson, Valerie Harris, Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Gabor Csanyi, Brian K. Stansfield
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Scientific Reportsمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Receptors, CCR2, Science, Bone Marrow Cells, Monocytes, Article, Mice, Neointima, Animals, neoplasms, Myeloid Progenitor Cells, Mice, Knockout, Mitogen-Activated Protein Kinase Kinases, Neurofibromin 1, Multidisciplinary, Carotid artery disease, Macrophages, Translational research, eye diseases, nervous system diseases, Mice, Inbred C57BL, Medicine, Carotid Artery Injuries
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a895958599cca966c422b424d604e718Test
https://doaj.org/article/fdf72ef11b264d2c8b34b039c4eb11d0Test -
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المؤلفون: Jit Chatterjee, Shilpa Sanapala, Olivia Cobb, Alice Bewley, Andrea K. Goldstein, Elizabeth Cordell, Xia Ge, Joel R. Garbow, Michael J. Holtzman, David H. Gutmann
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communicationsمصطلحات موضوعية: Optic Nerve Glioma, Neurofibromatosis 1, T-Lymphocytes, Science, General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, Article, Paediatric cancer, Mice, Monitoring, Immunologic, Animals, Chemokine CCL4, Chemokine CCL5, Multidisciplinary, Neurofibromin 1, Brain Neoplasms, Immunosurveillance, Optic Nerve, General Chemistry, Glioma, Asthma, nervous system diseases, CNS cancer, Mice, Inbred C57BL, Disease Models, Animal, Microglia, Decorin, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd264f39f7f55a23fc6e2bcb18b5711Test
https://doaj.org/article/e627dfd988e34a69a26d27c59e8d639bTest -
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المؤلفون: Corina Anastasaki, Paola Orozco, David H. Gutmann
المصدر: Disease modelsmechanisms. 15(2)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Neurofibromin 1, Immunology and Microbiology (miscellaneous), Genes, Neurofibromatosis 1, Neuroscience (miscellaneous), Medicine (miscellaneous), Humans, Proteins, General Biochemistry, Genetics and Molecular Biology, nervous system diseases, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89037c5c443d6c95b62e58e1acee39eeTest
https://pubmed.ncbi.nlm.nih.gov/35188187Test -
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المؤلفون: Merve Yazol, Betul Emine Derinkuyu, Oznur Boyunaga
مصطلحات موضوعية: Optic Nerve Glioma, Neurofibromatosis 1, Pediatrics, Perinatology and Child Health, Humans, Female, Optic Nerve, Neurology (clinical), General Medicine, Arachnoid, Child, Magnetic Resonance Imaging, nervous system diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f67a338aba7a06a1af5d9746681636fTest
https://avesis.gazi.edu.tr/publication/details/5cee6657-2387-49aa-98fe-e1d725e1abe4/oaiTest -
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المؤلفون: Malik Chaker-Margot, Sebastiaan Werten, Theresia Dunzendorfer-Matt, Stefan Lechner, Angela Ruepp, Klaus Scheffzek, Timm Maier
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Neurofibromin 1, Cryoelectron Microscopy, GTPase-Activating Proteins, Genes, Neurofibromatosis 1, Humans, Cell Biology, Molecular Biology, nervous system diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15351f3c645b6c53c999edd2e795b852Test
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المؤلفون: Annalisa Maraone, Emanuele Miraglia, Massimo Pasquini, Isabella Berardelli, Chiara Iacovino, Daniele Belvisi, Giovanni Fabbrini, Marianna Frascarelli, Maurizio Pompili, Sandra Giustini
المصدر: International Journal of Psychiatry in Clinical Practice. 25:350-355
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Disease, perceived disability, Risk Assessment, Neurofibromatosis, Suicidal Ideation, hopelessness, suicidal ideation, medicine, Humans, In patient, Psychiatry, Suicide Risk, neoplasms, Suicidal ideation, business.industry, Mental Disorders, medicine.disease, eye diseases, nervous system diseases, Suicide, Psychiatry and Mental health, Case-Control Studies, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c18a51183fc5c91c9d27340434e90b10Test
https://doi.org/10.1080/13651501.2021.1921217Test -
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المؤلفون: Mishie Tanino, Hidehiro Takei, Sayaka Yuzawa, Yuki Kamikokura
المصدر: Clinical Neuropathology. 40:201-208
مصطلحات موضوعية: Adult, Male, X-linked Nuclear Protein, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Nerve root, Astrocytoma, Pathology and Forensic Medicine, Malignant transformation, Humans, Medicine, Spinal Cord Neoplasms, Neurofibromatosis, neoplasms, ATRX, business.industry, General Medicine, medicine.disease, Spinal cord, nervous system diseases, Cell Transformation, Neoplastic, Spinal cord tumor, medicine.anatomical_structure, Neurology, Cordectomy, Neurology (clinical), Neoplasm Recurrence, Local, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8724ec2f5e819b2694f9bc91574346fcTest
https://doi.org/10.5414/np301314Test