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1دورية أكاديميةHigh frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Jesus Sainz, Duong P. Huynh, Karla Figueroa, Nikola K. Ragge, Michael E. Baser, Stefan-matthias Pulst
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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3
المؤلفون: Richard T. Ramsden, Michael E. Baser, Atta Mohyuddin, D. Gareth Evans
المصدر: World Journal of Neuroscience. :155-161
مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, Tumor suppressor gene, business.industry, Growth factor, medicine.medical_treatment, medicine.disease, Loss of heterozygosity, otorhinolaryngologic diseases, medicine, biology.protein, Immunohistochemistry, Allele, Neurofibromatosis, business, Pathological, Platelet-derived growth factor receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ece51d592c14590e332cbd10107d3f5dTest
https://doi.org/10.4236/wjns.2015.52017Test -
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المؤلفون: Michael E. Baser, D. Gareth Evans, Jan M. Friedman, A Shenton, Richard T. Ramsden, Harry Joe, Andrew J Wallace
المصدر: Genetics in Medicine. 13:576-581
مصطلحات موضوعية: Adult, Male, Neurofibromatosis 2, medicine.medical_specialty, Pediatrics, Adolescent, Disease, Empirical Research, Diagnostic system, Diagnosis, Differential, medicine, Humans, Genetic Testing, Neurofibromatosis, Family history, Child, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Age Factors, Infant, Newborn, Infant, Neuroma, Acoustic, Middle Aged, medicine.disease, Surgery, Natural history, Early Diagnosis, Child, Preschool, Vestibular Schwannomas, Female, business, Neurilemmoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db72d08a265d39c4a13db3a69819be9Test
https://doi.org/10.1097/gim.0b013e318211faa9Test -
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المؤلفون: Saba Sharif, Michael E. Baser, Jillian M Birch, Rosalie E. Ferner, D. Gareth Evans, H. Rao Gattamaneni, James E. Gillespie
المصدر: Journal of Clinical Oncology. 24:2570-2575
مصطلحات موضوعية: Adult, Male, Optic Nerve Glioma, Cancer Research, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Optic glioma, medicine.medical_treatment, Risk Assessment, Central nervous system disease, Risk Factors, Glioma, medicine, Humans, Neurofibromatosis, Risk factor, Child, Radiotherapy, business.industry, Contraindications, Infant, Cancer, Neoplasms, Second Primary, medicine.disease, Surgery, Radiation therapy, Oncology, Child, Preschool, Relative risk, Female, Radiology, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e852f43c9ad72b660b452c318d05a33Test
https://doi.org/10.1200/jco.2005.03.8349Test -
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المؤلفون: D G R Evans, Michael E. Baser, Andrew T. King, Andrew J Wallace, C Watson
المصدر: Journal of Medical Genetics. 42:45-48
مصطلحات موضوعية: Adult, Neurofibromatosis 2, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neuromuscular disease, genetic structures, Adolescent, Loss of Heterozygosity, Schwannoma, Biology, medicine.disease_cause, Polymerase Chain Reaction, Meningioma, Genes, Neurofibromatosis 2, otorhinolaryngologic diseases, Genetics, medicine, Humans, Point Mutation, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Mutation, Mosaicism, Point mutation, Neurooncology, Neuroma, Acoustic, medicine.disease, nervous system diseases, El Niño, Original Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d3b43a2d403ece7fe201a4b4c04a297Test
https://doi.org/10.1136/jmg.2004.023705Test -
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المؤلفون: Michael E. Baser, Richard T. Ramsden, J. E. Gillespie, Lisa Kuramoto, Andrew J Wallace, Harry Joe, Jan M. Friedman, D. Gareth Evans
المصدر: The American Journal of Human Genetics. 75(2):231-239
مصطلحات موضوعية: Nervous system, Pathology, medicine.medical_specialty, Neurofibromatosis 2, Genotype, Population, Nervous System Neoplasms, Biology, Frameshift mutation, medicine, otorhinolaryngologic diseases, Genetics, Missense mutation, Humans, Genetics(clinical), Neurofibromatosis, Age of Onset, education, Genetics (clinical), education.field_of_study, Autosomal dominant trait, Articles, medicine.disease, medicine.anatomical_structure, Phenotype, Mutation, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06546ec028f19ad4332bebc5edc7e546Test
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المؤلفون: A Heiberg, R T Ramsden, A Moyhuddin, Andrew J Wallace, Michael E. Baser, D G R Evans, Shaun Purcell, C Watson
المصدر: Journal of Medical Genetics. 40:459-463
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, education.field_of_study, Pediatrics, Mutation, Neuromuscular disease, medicine.diagnostic_test, business.industry, Population, medicine.disease, medicine.disease_cause, Germline, otorhinolaryngologic diseases, medicine, Medical genetics, Neurofibromatosis, Age of onset, business, education, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48484084fa016a0113b64fd701ca0330Test
https://doi.org/10.1136/jmg.40.6.459Test -
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المؤلفون: Michael E. Baser, D. Gareth R. Evans, David H. Gutmann
المصدر: Current Opinion in Neurology. 16:27-33
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bca601edaa5ad19f8ac69ec558600529Test
https://doi.org/10.1097/00019052-200302000-00004Test -
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المؤلفون: Michael E. Baser, Jan M. Friedman, Richard T. Ramsden, Harry Joe, D G R Evans, Andrew J Wallace
المصدر: Neurology. 59:1759-1765
مصطلحات موضوعية: Adult, Male, Neurofibromatosis 2, medicine.medical_specialty, Pediatrics, Adolescent, MEDLINE, Ear neoplasm, Diagnosis, Differential, Pathognomonic, otorhinolaryngologic diseases, medicine, Humans, Registries, Family history, Neurofibromatosis, Child, Ear Neoplasms, Aged, Aged, 80 and over, business.industry, McDonald criteria, DNA, Middle Aged, medicine.disease, United Kingdom, Surgery, Clinical trial, Vestibular Diseases, Child, Preschool, Data Interpretation, Statistical, Mutation, Female, Neurology (clinical), Differential diagnosis, Meningioma, business, Neurilemmoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58784c383a37616465ec0c48ba2d3c39Test
https://doi.org/10.1212/01.wnl.0000035638.74084.f4Test