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1
المؤلفون: Yiping Qu, Maoguo Shu, Yuchen Zhang, Shu-Zhong Guo, Rongsheng Zhou, Zhuan-Li Bai
المصدر: Archives of Medical Research. 48:498-505
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Epithelial-Mesenchymal Transition, Neurofibromatosis 1, Blotting, Western, Mice, Nude, Schwann cell, medicine.disease_cause, Mice, 03 medical and health sciences, chemistry.chemical_compound, Western blot, Cell Movement, Genes, Neurofibromatosis 1, medicine, Animals, Neurofibroma, Epithelial–mesenchymal transition, neoplasms, Cells, Cultured, Cell Proliferation, Wound Healing, Gene knockdown, Neurofibromin 1, Thioctic Acid, medicine.diagnostic_test, Chemistry, General Medicine, medicine.disease, Phenotype, Up-Regulation, nervous system diseases, Cell biology, Cell Transformation, Neoplastic, 030104 developmental biology, medicine.anatomical_structure, Lipoamide, Schwann Cells, Reactive Oxygen Species, Carcinogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18ced81f1a50c1b7e9f714168e8d126Test
https://doi.org/10.1016/j.arcmed.2017.11.014Test -
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المؤلفون: Ben Shofty, Shay Ben-Shachar, Shlomi Constantini
المصدر: Seminars in Pediatric Neurology. 22:234-239
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Highly variable expression, Neurofibromatosis 1, Genetic counseling, Genetic disorder, Inheritance (genetic algorithm), Genetic Counseling, Biology, medicine.disease, Phenotype, nervous system diseases, Molecular Diagnostic Techniques, Clinical diagnosis, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Neurofibromatosis, neoplasms, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c2064c2a5d44fd85b05681dbbfe071Test
https://doi.org/10.1016/j.spen.2015.10.007Test -
3
المؤلفون: Yi Dai, Shengran Liang, Jing Wu, Huishuang Chen, Hui Huang, Yanyan Wang, Lihui Tang, Santasree Banerjee
المصدر: Journal of Clinical Neuroscience. 31:182-184
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Astrocytoma, Nerve Sheath Neoplasms, DNA sequencing, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Physiology (medical), medicine, Humans, Neurofibromatosis, Frameshift Mutation, Genetics, Sanger sequencing, Neurofibromin 1, biology, Syndrome, General Medicine, Middle Aged, medicine.disease, Pedigree, nervous system diseases, Phenotype, 030104 developmental biology, Neurology, Codon, Nonsense, Case-Control Studies, Mutation (genetic algorithm), biology.protein, symbols, Female, Surgery, Neurology (clinical), 030217 neurology & neurosurgery, Nerve sheath neoplasm
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ddbe2ae27c8f2eebcca49e2ec201b28Test
https://doi.org/10.1016/j.jocn.2015.12.034Test -
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المؤلفون: Yves Chaix, Stéphanie Iannuzzi, Caroline Hachon
المصدر: Brain and Development. 33:52-61
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, media_common.quotation_subject, Context (language use), Neuropsychological Tests, Developmental psychology, Dyslexia, Cognition, Developmental Neuroscience, Neuroimaging, Reading (process), medicine, Animals, Humans, Neurofibromatosis, media_common, Behavior, Learning Disabilities, General Medicine, medicine.disease, Phenotype, nervous system diseases, Pediatrics, Perinatology and Child Health, Learning disability, Etiology, Neurology (clinical), medicine.symptom, Cognition Disorders, Psychology, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502ed64e62169fd838f936310e330c86Test
https://doi.org/10.1016/j.braindev.2009.12.008Test -
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المؤلفون: S. Giovannini, Susan M Huson, D G R Evans, Nadia Chuzhanova, Rachel K. Hachen, J. P. Van Biervliet, Hua Li, A. Barnicoat, David A. Stevenson, Dave Viskochil, M. Davies, Conxi Lázaro, Darius J. Adams, E. Howard, Vincent M. Riccardi, Nicholas Stuart Tudor Thomas, Sian Wyn Griffiths, Diana Baralle, Bronwyn Kerr, Peter D. Turnpenny, Meena Upadhyaya, Claudia Consoli, Lucy Side, Ludwine Messiaen, Eric Haan, Mary Ella M Pierpont, P. Wallace
المصدر: The American Journal of Human Genetics. 80:140-151
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Skin Neoplasms, Adolescent, Genotype, Biology, medicine.disease_cause, Article, Exon, Genetics, medicine, Humans, Neurofibroma, Genetics(clinical), Child, Genetics (clinical), Watson syndrome, Sequence Deletion, Legius syndrome, Mutation, Neurofibromin 1, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Phenotype, Pedigree, nervous system diseases, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d149c8ff09c5f7d18e166bb6483538Test
https://doi.org/10.1086/510781Test -
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المؤلفون: Günter Assum, Kim Beyer, Winfrid Krone, Ingrid Eisenbarth
المصدر: The American Journal of Human Genetics. 66(2):393-401
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Molecular Sequence Data, Loss of Heterozygosity, medicine.disease_cause, Loss of heterozygosity, Germline mutation, Gene Frequency, Gene duplication, Tumor-suppressor gene, Tumor Cells, Cultured, medicine, Genetics, Humans, Point Mutation, Neurofibroma, Genetics(clinical), Neurofibromatosis, neoplasms, Alleles, Genetics (clinical), Sequence Deletion, Mutation, Neurofibromin 1, Polymorphism, Genetic, biology, Somatic mutation, Point mutation, Genetic Variation, Proteins, Articles, Middle Aged, medicine.disease, Peptide Fragments, eye diseases, nervous system diseases, Phenotype, Codon, Terminator, biology.protein, Female, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0962ee0190184aae33cb120a3c935c83Test