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1
المساهمون: Clinical Genetics
المصدر: American Journal of Medical Genetics Part A, 158A(7), 1750-1753. Wiley-Liss Inc.
مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Plexiform neurofibroma, Genes, Neurofibromatosis 1, Genetics, Medicine, Humans, Eye Abnormalities, Neurofibromatosis, NF1 Mutation, Genetics (clinical), Aged, Neurofibroma, Plexiform, biology, Blindness, Base Sequence, business.industry, Exons, Middle Aged, medicine.disease, Neurofibromin 1, Dermatology, Magnetic Resonance Imaging, Face, Mutation, biology.protein, Tears, Female, sense organs, business, Novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9a1b7d2fd47b5b4da948d3cd020b1cTest
https://hdl.handle.net/1765/74074Test -
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المؤلفون: Jessica M. Engel, Adedayo A. Onitilo
المصدر: American Journal of Medical Genetics Part A. 161:389-392
مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Neurofibromin 1, Skin Neoplasms, Leiomyoma, Atypical manifestations, business.industry, DNA Mutational Analysis, Mutation, Missense, Breast Neoplasms, Neoplasms, Second Primary, Middle Aged, Dermatology, Radiography, Carcinoma, Intraductal, Noninfiltrating, Uterine Neoplasms, Genetics, Humans, Medicine, Female, business, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5649f95ef91ab089ef2bc646185dfacaTest
https://doi.org/10.1002/ajmg.a.35728Test -
3
المؤلفون: Patricia G. Wheeler, Ab Sadeghi-Nejad
المصدر: American Journal of Medical Genetics Part A. :78-81
مصطلحات موضوعية: Family Health, Hypopigmentation, Male, medicine.medical_specialty, Neurofibromatosis 1, business.industry, media_common.quotation_subject, medicine.disease, Dermatology, Pedigree, Tuberous sclerosis, Endocrinology, Thigh, Tuberous Sclerosis, Child, Preschool, Internal medicine, Genetics, medicine, Humans, Female, Girl, Neurofibromatosis, business, Genetics (clinical), media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf1ab03eba0f64fe84948cab1f71cd1Test
https://doi.org/10.1002/ajmg.a.30530Test