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المؤلفون: Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith
المصدر: Human Mutation. 43:643-654
مصطلحات موضوعية: Neurofibromin 2, Genes, Neurofibromatosis 2, Mutation, Missense, Genetics, Humans, Genomics, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36Test
https://doi.org/10.1002/humu.24370Test -
2
المؤلفون: Yu Ge, Mengyin Ma, Tao Zhang
المصدر: World Neurosurgery. 158:e245-e255
مصطلحات موضوعية: Cdc20 Proteins, Cell Cycle Proteins, Spindle Apparatus, CDC20, Gene mutation, Anaphase-Promoting Complex-Cyclosome, Meningioma, Genes, Neurofibromatosis 2, Meningeal Neoplasms, otorhinolaryngologic diseases, Humans, Medicine, neoplasms, Neurofibromin 2, business.industry, Cell growth, Cell Cycle, Cell cycle, medicine.disease, nervous system diseases, Cell biology, Merlin (protein), Spindle checkpoint, M Phase Cell Cycle Checkpoints, Surgery, Neurology (clinical), Anaphase-promoting complex, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::842f0f7da9d77cbb586f201e3f3330cbTest
https://doi.org/10.1016/j.wneu.2021.10.163Test -
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المؤلفون: Lu Xue, Weiwei He, Yi Zhang, Zhigang Wang, Hongsai Chen, Zhe Chen, Weidong Zhu, Dongmei Liu, Huan Jia, Yi Jiang, Zhaoyan Wang, Hao Wu
المصدر: Neuro Oncol
مصطلحات موضوعية: Neurofibromatosis 2, Neurofibromin 2, Cancer Research, Phenotype, Oncology, Mosaicism, Genes, Neurofibromatosis 2, Basic and Translational Investigations, Mutation, otorhinolaryngologic diseases, High-Throughput Nucleotide Sequencing, Humans, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bd7064928625d501301bc466f7ab3aTest
https://doi.org/10.1093/neuonc/noab287Test -
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المؤلفون: Victoria Y, Wang, Te-Yi, Liu, Te-Yung, Fang, Ya-Hui, Chen, Chi-Jung, Huang, Pa-Chun, Wang
المصدر: Acta Oto-Laryngologica. 142:36-42
مصطلحات موضوعية: Adult, Male, Neurofibromatosis 2, Adolescent, Genotype, Hearing Tests, General Medicine, Middle Aged, Tumor Burden, Tinnitus, Young Adult, Phenotype, Otorhinolaryngology, Genes, Neurofibromatosis 2, Humans, Female, Genetic Testing, Child, Hearing Loss, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b95e84ba624f3459bfef048dbb8fa6Test
https://doi.org/10.1080/00016489.2021.2012594Test -
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المؤلفون: Abigail K. Suwala, Leonille Schweizer, Brigitte Bison, Annika K. Wefers, Christian Hagel, Andreas von Deimling, Katja Kloth-Stachnau, Lara Engertsberger, Martin Mynarek, Michael Spohn, Catena Kresbach, Martin Benesch, Stefan Rutkowski, Ulrich Schüller, Viktor-F Mautner, Mario M. Dorostkar
المصدر: Acta Neuropathologica
Acta neuropathologica 141(6), 971-974 (2021). doi:10.1007/s00401-021-02304-4مصطلحات موضوعية: Adult, Male, genetics [Ependymoma], Pathology, medicine.medical_specialty, Neurofibromatosis 2, genetics [Central Nervous System Neoplasms], Adolescent, MEDLINE, genetics [DNA Methylation], Pathology and Forensic Medicine, Central Nervous System Neoplasms, Cellular and Molecular Neuroscience, Text mining, Genes, Neurofibromatosis 2, Correspondence, medicine, Humans, pathology [Neurofibromatosis 2], Neurosciences, ddc:610, Neurofibromatosis type 2, Child, genetics [Neurofibromatosis 2], business.industry, pathology [Ependymoma], pathology [Central Nervous System Neoplasms], Histology, DNA Methylation, medicine.disease, Magnetic Resonance Imaging, diagnostic imaging [Central Nervous System Neoplasms], complications [Neurofibromatosis 2], Ependymoma, Child, Preschool, Mutation, Female, Neurology (clinical), business, diagnostic imaging [Ependymoma]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158cc94250caa71daf3e1f7f3dec35a5Test
http://europepmc.org/articles/PMC8113165Test -
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المؤلفون: Shahidul M. Islam, Brandon Havranek
المصدر: Journal of Biomolecular Structure and Dynamics. 39:7044-7055
مصطلحات موضوعية: Genetics, Neurofibromatosis 2, Neurofibromin 2, 0303 health sciences, Tumor Suppressor Proteins, 030303 biophysics, Nf2 gene, Single-nucleotide polymorphism, General Medicine, Disease, Molecular Dynamics Simulation, Protein Serine-Threonine Kinases, Biology, medicine.disease, Polymorphism, Single Nucleotide, 03 medical and health sciences, Structural Biology, Genes, Neurofibromatosis 2, Genetic variation, medicine, Humans, Nonsynonymous snps, Human genome, Neurofibromatosis type 2, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2f9801d1fe6db689bfe734233c60c3Test
https://doi.org/10.1080/07391102.2020.1805018Test -
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المؤلفون: Ajit Paintal, Melissa Y. Tjota, Peng Wang, Carrie Fitzpatrick, Pankhuri Wanjari, Walter M. Stadler, Alexander J. Gallan, Jeremy Segal, Tatjana Antic
المصدر: The American journal of surgical pathology. 46(5)
مصطلحات موضوعية: Male, Neurofibromin 2, Genes, Neurofibromatosis 2, Biomarkers, Tumor, Meningeal Neoplasms, Humans, Surgery, Female, Anatomy, Meningioma, Carcinoma, Renal Cell, Kidney Neoplasms, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71dbd4689e49b9b141cd770e7e6efe4cTest
https://pubmed.ncbi.nlm.nih.gov/35034039Test -
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المؤلفون: Alejandro Negro, Cristina Hostalot, Juan Luis Becerra, Conxi Lazaro Garcia, Adrià Plana, Eduard Serra, Belen Garcia, Ignacio Blanco, Núria Catasús, Iván Galván-Femenía, Rafael de Cid, Andrea Ros, Isabel Bielsa, Elisabeth Castellanos, Emilio Amilibia, Inma Rosas, Francesc Roca-Ribas
المصدر: Journal of Medical Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Oncology, medicine.medical_specialty, Neurofibromatosis 2, Genetic counseling, Disease, Germline, Correlation, neonatal diseases and abnormalities, Internal medicine, Genes, Neurofibromatosis 2, otorhinolaryngologic diseases, Genetics, medicine, Humans, genetics, Neurofibromatosis type 2, Genetics (clinical), Genetic Association Studies, genetic predisposition to disease, Neurofibromin 2, business.industry, congenital, medicine.disease, Phenotype, United Kingdom, Mutation (genetic algorithm), Cohort, Mutation, business, hereditary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::187d539054969332edec3f44baf86262Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1742Test -
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المصدر: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery. 56(11)
مصطلحات موضوعية: Neurofibromatosis 2, Genes, Neurofibromatosis 2, Humans, Neuroma, Acoustic, Cochlear Implantation, Sequence Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a0e620818a8f0dfd2036601197b47d59Test
https://pubmed.ncbi.nlm.nih.gov/34749460Test -
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المؤلفون: Isabel Gugel, Marcos Tatagiba, Philip Hartjen, Martin U. Schuhmann, Julian Zipfel, Victor-Felix Mautner, Lan Kluwe
المصدر: Child's Nervous System
مصطلحات موضوعية: Neurofibromatosis 2, medicine.medical_specialty, Bevacizumab, Decompression, Schwannoma, Young Adult, 03 medical and health sciences, Vestibular schwannoma, 0302 clinical medicine, Hearing, Genes, Neurofibromatosis 2, otorhinolaryngologic diseases, medicine, Humans, Neurofibromatosis type 2, Young adult, Child, Vestibular system, Neurofibromin 2, Hearing preservation, Growth rate, business.industry, Neuroma, Acoustic, General Medicine, medicine.disease, Tumor Burden, Surgery, Treatment Outcome, Annual Issue Paper, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc817021dc5784615bfcd7d553145deTest
https://doi.org/10.1007/s00381-020-04728-xTest