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1دورية أكاديمية
المؤلفون: Rahul Ahar, Ishad Aggarwal, Ayan Samanta, Arghyaprasun Ghosh, Gobinda Chatterjee, Neha Sharma
المصدر: Journal of Clinical and Diagnostic Research, Vol 12, Iss 5, Pp WC01-WC04 (2018)
مصطلحات موضوعية: axillary freckling, genodermatosis, melanosis, pigmentation, von recklinghausen disease, Medicine
وصف الملف: electronic resource
العلاقة: https://jcdr.net/articles/PDF/11478/32125_CETest[Ra]_F(P)_PF1_(MJ_AP)_PFA(MJ_AP)_PB(MJ_SS)_PN(AP).pdf; https://doaj.org/toc/2249-782XTest; https://doaj.org/toc/0973-709XTest
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2
المؤلفون: Federico Zara, Raffaele Falsaperla, Vincenzo Antona, Gregorio Serra, Ettore Piro, Giovanni Corsello
المساهمون: Serra G., Antona V., Corsello G., Zara F., Piro E., Falsaperla R.
المصدر: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-7 (2019)
Italian Journal of Pediatricsمصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genotype-phenotype correlation, Neurofibromatoses, Lisch nodule, Contiguous gene syndrome, Population, Case Report, Chromosomes, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Atypical deletion, Intellectual Disability, medicine, Humans, Multiplex ligation-dependent probe amplification, Neurofibromatosis, education, Child, Preschool, education.field_of_study, business.industry, Learning Disabilities, Pair 17, lcsh:RJ1-570, Axillary freckling, lcsh:Pediatrics, medicine.disease, eye diseases, MLPA, 030104 developmental biology, NF1 gene, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, business, Chromosomes, Human, Pair 17, 030217 neurology & neurosurgery, Comparative genomic hybridization, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4784f70a5bdadb9da949c839e79ed250Test
http://link.springer.com/article/10.1186/s13052-019-0718-7Test -
3تقرير
المؤلفون: Sharafi P, Anlar B, and Ayter S
مصطلحات موضوعية: Neurofibromatosis type 1, Noonan syndrome, Neurofibromatosis - Noonan syndrome, NF1 gene mutations, Watson syndrome, Polymerase chain reaction, Axillary freckling, Rhabdomyosarcoma, Skeletal dysplasia, Lisch nodules, Astrocytomas, Pheochromocytomas, Hypertelorism, Palpebral fissures, Macrocephaly, Valvular stenosis, Cafe-au-lait spots
وصف الملف: application/pdf
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4
المؤلفون: Manoj Kumar Nayak, Vivek Mohanty
المصدر: Indian Journal of Case Reports. :299-301
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Weakness, medicine.diagnostic_test, business.industry, Genetic disorder, Axillary freckling, Physical examination, medicine.disease, Dermatology, Radiological weapon, otorhinolaryngologic diseases, medicine, medicine.symptom, Family history, Posterior subcapsular cataract, Neurofibromatosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::14cb0853a6bb62bfe23ee5ab6b5ad782Test
https://doi.org/10.32677/ijcr.2020.v06.i06.004Test -
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المصدر: Military medicine. 186(5-6)
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Malignant peripheral nerve sheath tumor, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, Neurofibrosarcoma, Café au lait spot, medicine, Neurofibroma, Humans, Neurofibromatosis, 030304 developmental biology, 0303 health sciences, Neurofibromin 1, biology, business.industry, Cafe-au-Lait Spots, Public Health, Environmental and Occupational Health, Axillary freckling, General Medicine, medicine.disease, nervous system diseases, Black or African American, Military Personnel, 030220 oncology & carcinogenesis, biology.protein, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a338fc0327caaad361cef3b5c058685Test
https://pubmed.ncbi.nlm.nih.gov/33180928Test -
6
المؤلفون: Vita Setrajcic Dragos, Srdjan Novaković, Vida Stegel, Gašper Klančar, Ana Blatnik, Mateja Krajc, Olga Blatnik
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, mRNA, Case Report, functional analysis, 03 medical and health sciences, splicing, 0302 clinical medicine, Breast cancer, Plexiform neurofibroma, medicine.artery, neurofibromatosis type I, Genetics, Medicine, Genetics (clinical), Subclavian artery, Neurofibromatosis type I, business.industry, variant of uncertain significance, Axillary freckling, medicine.disease, Phenotype, nervous system diseases, lcsh:Genetics, 030104 developmental biology, splicing alteration, NF1, 030220 oncology & carcinogenesis, NGS, RNA splicing, Molecular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b835b9f4d683dfb8358f58fbaf723a7cTest
http://europepmc.org/articles/PMC6714493Test -
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المؤلفون: Meriya Zacharia, Athira Sudhesan
المصدر: Journal of Evidence Based Medicine and Healthcare, Vol 4, Iss 80, Pp 4701-4706 (2017)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, lcsh:R5-130.5, Lisch Nodules, medicine.disease, Axillary Freckling, Dermatology, Intelligence Quotient, Neurofibromatosis, Clinical study, Café-Au-Lait Macules, medicine, business, lcsh:General works
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5a3f13cc4c063cef642a6d58fda95dTest
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المصدر: Acta Medica Philippina. 53
مصطلحات موضوعية: Hypertrichosis, medicine.medical_specialty, business.industry, Medicine, Axillary freckling, Neurofibroma, Multiple Neurofibromas, General Medicine, Scoliosis, Neurofibromatosis, business, medicine.disease, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9dd0dadf5f7ac025bc23c3fdf84bcf7Test
https://doi.org/10.47895/amp.v53i2.196Test -
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المؤلفون: ArunC Inamadar, NazneenZulfikar Arsiwala, Ajit B Janagond
المصدر: Clinical Dermatology Review, Vol 4, Iss 1, Pp 46-49 (2020)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Cutaneous Mastocytosis, Axillary freckling, Dermatology, General Medicine, neurofibromatosis-1, Gene mutation, medicine.disease, Mast cell, medicine.anatomical_structure, c-kit, RL1-803, Medicine, Urticaria pigmentosa, Neurofibroma, Neurofibromatosis, Abnormality, mast cell, business, urticaria pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8fa88200ff57d4bf3af822cf06605a4Test
https://doi.org/10.4103/cdr.cdr_37_18Test -
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المؤلفون: Bilal Dogan, Sevil Savaş Erdoğan, Sevim Baysak, Cüneyt Kara, Mehtap Toprak, Tuğba Falay Gür
المصدر: Dermatologica Sinica, Vol 38, Iss 2, Pp 110-112 (2020)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Axillary freckling, Dermatology, lcsh:RL1-803, Spinal neurofibromas, medicine.disease, Cafe-au-lait macules, neurofibroma, Vagus nerve, great auricular nerve, neurofibromatosis 1, lcsh:Dermatology, medicine, Neurofibroma, Great auricular nerve, Neurofibromatosis, Skeletal abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae549b4c1a440ecab378e5c65dcb5f79Test
https://doi.org/10.4103/ds.ds_40_19Test