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المصدر: American Journal of Medical Genetics Part A. 176:386-390
مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Central nervous system, Brain tumor, Article, Basal Ganglia, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Seizures, Basal ganglia, Genetics, medicine, Humans, Neurofibromatosis, Child, Genetics (clinical), Monomeric GTP-Binding Proteins, Neurons, Brain Neoplasms, business.industry, Metabolic disorder, Brain, nutritional and metabolic diseases, medicine.disease, Magnetic Resonance Imaging, Smith-Lemli-Opitz Syndrome, Cholesterol, 030104 developmental biology, medicine.anatomical_structure, Smith–Lemli–Opitz syndrome, Child, Preschool, Brain lesions, Brainstem, business, 030217 neurology & neurosurgery, Brain Stem
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb72146c753a61007f61160e601e2788Test
https://doi.org/10.1002/ajmg.a.38563Test -
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المؤلفون: Joel Charrow, Zabin S. Patel, Robert Listernick, Sally E. Jensen, Jin Shei Lai
المصدر: American Journal of Medical Genetics Part A. 173:79-87
مصطلحات موضوعية: Adult, Male, Neurofibromatosis 1, Adolescent, Physical function, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Physical functioning, Surveys and Questionnaires, Genetics, Humans, Medicine, Neurofibromatosis, Child, Qualitative Research, Genetics (clinical), Aged, Neurofibroma, Plexiform, business.industry, Patient-centered outcomes, Middle Aged, Disfigurement, medicine.disease, Patient Outcome Assessment, Phenotype, Socioeconomic Factors, Conceptual framework, Child, Preschool, 030220 oncology & carcinogenesis, Quality of Life, Anxiety, Female, Self Report, medicine.symptom, business, 030217 neurology & neurosurgery, Qualitative research, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d0fdb7bc36d5a410ae5e51de232989Test
https://doi.org/10.1002/ajmg.a.37987Test -
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المؤلفون: Roy E. Strowd, Jaishri O. Blakeley, James J. Vredenburgh, Alessandro Olivi, Fausto J. Rodriguez, Edward S. Ahn, Roger E. McLendon, Aaron B. Chance, George I. Jallo
المصدر: American Journal of Medical Genetics Part A. 170:1455-1461
مصطلحات موضوعية: Adult, Diagnostic Imaging, Male, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Biopsy, Brain tumor, Astrocytoma, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Young adult, Neurofibromatosis, Genetics (clinical), Retrospective Studies, Pilocytic astrocytoma, business.industry, Case-control study, Brain, Retrospective cohort study, medicine.disease, Combined Modality Therapy, Phenotype, Treatment Outcome, Case-Control Studies, 030220 oncology & carcinogenesis, Cohort, Disease Progression, Female, Neoplasm Grading, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1f8f9f8289da97038da94ea264b437Test
https://doi.org/10.1002/ajmg.a.37622Test -
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المصدر: American Journal of Medical Genetics Part A. 164:1686-1694
مصطلحات موضوعية: Male, medicine.medical_specialty, Biomedical Research, Neurofibromatosis 1, Adolescent, Referral, Computer-assisted web interviewing, Patient advocacy, Young Adult, Rare Diseases, Genetics, Humans, Medicine, Registries, Recruitment methods, Child, Genetics (clinical), Internet, Government, Geography, business.industry, Patient Selection, Infant, Newborn, Infant, Online advertising, Child, Preschool, Family medicine, Female, The Internet, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377a67dcd1de89a3cb7d476c4eed609eTest
https://doi.org/10.1002/ajmg.a.36530Test -
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المؤلفون: Guy D. Leschziner, Rosalie E. Ferner, John F. Golding
المصدر: American Journal of Medical Genetics Part A. 161:1319-1322
مصطلحات موضوعية: Adult, Male, Sleep Wake Disorders, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Cohort Studies, Pittsburgh Sleep Quality Index, Young Adult, Epilepsy, Surveys and Questionnaires, Outpatients, Prevalence, Genetics, medicine, Insomnia, Humans, Prospective Studies, Neurofibromatosis, Young adult, Genetics (clinical), Aged, Sleep disorder, business.industry, Epworth Sleepiness Scale, Middle Aged, medicine.disease, Phenotype, Anxiety, Female, medicine.symptom, Sleep, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1836003a00f312dd48b00311c9610e25Test
https://doi.org/10.1002/ajmg.a.35915Test -
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المؤلفون: David Viskochil, Robert J. Hopkin, Austin M. Stevens, Heidi J. Kalkwarf, Lisa J. Martin, Jaya K. George-Abraham, Elizabeth K. Schorry, Margaret B. Rieley, David A. Stevenson, Heather Hanson
المصدر: American Journal of Medical Genetics Part A. 161:921-926
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Bone density, Motor Activity, Fractures, Bone, Young Adult, Bone Density, Risk Factors, Surveys and Questionnaires, Prevalence, Genetics, medicine, Humans, Young adult, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Retrospective Studies, Bone mineral, Bone Diseases, Developmental, business.industry, Incidence (epidemiology), Retrospective cohort study, medicine.disease, Physical activity level, nervous system diseases, Calcium, Dietary, Osteopenia, Child, Preschool, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66242fcf3e5e93ab96d9deba77a99586Test
https://doi.org/10.1002/ajmg.a.35541Test -
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المؤلفون: X. Wang, S.E. Smolinski, Michael A. Tainsky, F.D. Vigneau, N.K. Levin, A.M. Levin
المصدر: American Journal of Medical Genetics Part A. :3061-3064
مصطلحات موضوعية: Adult, Michigan, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Breast Neoplasms, Cohort Studies, Young Adult, Breast cancer screening, Breast cancer, Neoplasms, Epidemiology of cancer, Genetics, Surveillance, Epidemiology, and End Results, Humans, Medicine, Genetic Predisposition to Disease, Registries, Age of Onset, Young adult, Genetics (clinical), Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, Obstetrics, Incidence, Incidence (epidemiology), Cancer, Middle Aged, medicine.disease, Female, Age of onset, business, SEER Program
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba2067f897e76120efe0f596f6cb4fd9Test
https://doi.org/10.1002/ajmg.a.35560Test -
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المؤلفون: Sandra Janssens, Marjan Cosyns, John Van Borsel, Geert Mortier, Kathleen Claes
المصدر: NF conference 2011 : program book
American journal of medical genetics : part Aمصطلحات موضوعية: Adult, Male, Consonant, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Population, Audiology, Young Adult, Nasometry, Sex Factors, Belgium, Medicine and Health Sciences, otorhinolaryngologic diseases, Genetics, medicine, Humans, Neurofibromatosis, Young adult, education, neoplasms, Genetic Association Studies, Genetics (clinical), Aged, Nasality, education.field_of_study, Voice Disorders, business.industry, Age Factors, Case-control study, Brain, Middle Aged, medicine.disease, nervous system diseases, Case-Control Studies, Mutation, Female, Human medicine, Nasalance, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5150f707e55629a85316981c2788282Test
https://doi.org/10.1002/ajmg.a.34314Test