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1
المؤلفون: Ketan R. Bulsara, Yuka Takemon, Marco Giovannini, William H. Slattery, Kevin A. Peng, Chew Yee Ngan, Rahul Maurya, Juanjuan Zhao, Jeremie Vitte, Liang Gong, Chia-Lin Wei, Chee Hong Wong, Marc S. Schwartz, Daniel S. Roberts, Gregory P. Lekovic
المصدر: Otology & Neurotology. 40:e150-e159
مصطلحات موضوعية: Male, Neurofibromatosis 2, medicine.disease_cause, Structural variation, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Gene expression, otorhinolaryngologic diseases, Humans, Medicine, Allele, Neurofibromatosis type 2, 030223 otorhinolaryngology, Gene, Genetics, business.industry, Genetic Variation, Neuroma, Acoustic, medicine.disease, Phenotype, Sensory Systems, Otorhinolaryngology, Mutation, Neurology (clinical), business, Carcinogenesis, 030217 neurology & neurosurgery, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7fd0f69832aa9432e1f7c214d72c36Test
https://doi.org/10.1097/mao.0000000000002096Test -
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المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Nature communications, vol 8, iss 1
Nature Communicationsمصطلحات موضوعية: Male, 0301 basic medicine, Time Factors, General Physics and Astronomy, Kaplan-Meier Estimate, Gene mutation, Schwannoma, medicine.disease_cause, Transgenic, Mice, Conditional gene knockout, SMARCB1, Child, Schwannomatosis, Cancer, Pediatric, Mice, Knockout, Neurofibromin 2, Multidisciplinary, SMARCB1 Protein, Female, Neurilemmoma, Knockout, Science, Mice, Transgenic, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Neurofibromatosis, Rhabdoid Tumor Predisposition Syndrome, 03 medical and health sciences, Rare Diseases, Germline mutation, Genetics, otorhinolaryngologic diseases, medicine, Animals, Humans, Rhabdoid Tumor, Germ-Line Mutation, Animal, Gene Expression Profiling, Neurosciences, General Chemistry, medicine.disease, Brain Disorders, Brain Cancer, Disease Models, Animal, Orphan Drug, 030104 developmental biology, Disease Models, Cancer research, Carcinogenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c551042199e32356c33ba60c6d8eb0Test
https://doi.org/10.1038/s41467-017-00346-5Test -
3
المؤلفون: Gabriele Lorenzo Capone, Marco Giovannini, Anna Laura Putignano, Roberta Sestini, Jeremie Vitte, Laura Papi, Irene Paganini
المصدر: Journal of neuro-oncology. 137(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cancer Research, Chromosomes, Human, Pair 22, Schwannoma, Biology, medicine.disease_cause, 03 medical and health sciences, Young Adult, otorhinolaryngologic diseases, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, SMARCB1, Neurofibromatosis type 2, Schwannomatosis, Child, neoplasms, Aged, Mutation, Neurofibromin 2, Spinal Neoplasms, Neuroma, Acoustic, SMARCB1 Protein, Middle Aged, medicine.disease, nervous system diseases, 030104 developmental biology, Neurology, Oncology, Cancer research, Female, Neurology (clinical), Carcinogenesis, Chromosome 22, Neurilemmoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bdd2dd63543c91474d30cc4db3d1cdTest
https://pubmed.ncbi.nlm.nih.gov/29230670Test -
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المؤلفون: Jeremie Vitte, Marco Giovannini, Lorenzo Barbetti, Laura Papi, Stanley F. Nelson, Vivian Y. Chang, Roberta Sestini, Eva Trevisson, Gabriele Lorenzo Capone, Theo J. M. Hulsebos, Matteo Benelli, Irene Paganini
المساهمون: Genome Analysis
المصدر: European journal of human genetics, 23(7), 963-968. Nature Publishing Group
European journal of human genetics : EJHG, vol 23, iss 7مصطلحات موضوعية: Male, Skin Neoplasms, Sequence Homology, Germline, Pathogenesis, 2.1 Biological and endogenous factors, Exome, Neurofibromatosis type 2, SMARCB1, Aetiology, Schwannomatosis, Genetics (clinical), Exome sequencing, Cancer, Genetics, Pediatric, Genetics & Heredity, LZTR1, Middle Aged, Immunohistochemistry, Pedigree, Amino Acid, Female, Sequence Analysis, Neurilemmoma, Adult, Neurofibromatoses, Molecular Sequence Data, Clinical Sciences, Biology, Article, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Aged, Family Health, Sequence Homology, Amino Acid, Neurosciences, Sequence Analysis, DNA, DNA, medicine.disease, Mutation, Chromosome 22, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26fd17950c62c9ab7a30c3be4857b87Test
https://pure.amc.nl/en/publications/expanding-the-mutational-spectrum-of-lztr1-in-schwannomatosisTest(72d08e7f-9860-466c-95b4-05f9bfae6716).html
