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المؤلفون: Christopher Rushton, Duncan Lyons, Sandeepal Sidhu
المصدر: Journal of Medical Cases
مصطلحات موضوعية: Male, X-linked dominant condition, Fat herniation, medicine.medical_specialty, Adult male, medicine.diagnostic_test, integumentary system, business.industry, Genetic disorder, Case Report, Unilateral, medicine.disease, Dermatology, Focal dermal hypoplasia, Multisystem disease, Somatic mosaicism, Rare case, New mutation, Skin biopsy, medicine, Goltz syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1809a505f5d6ffcdcb23fab385eba9c1Test
http://europepmc.org/articles/PMC8383521Test -
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المؤلفون: Rudolf Happle
المصدر: Journal of the European Academy of Dermatology and Venereology. 32:1075-1088
مصطلحات موضوعية: medicine.medical_specialty, Skin Neoplasms, Genetic counseling, Dermatology, Loss of heterozygosity, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Genetic etiology, Humans, Medicine, Vascular Diseases, Allele, Connective Tissue Diseases, Paraganglioma, Extra-Adrenal, Mosaicism, business.industry, Skin Diseases, Genetic, Glomus Tumor, Molecular analysis, Infectious Diseases, Clinical evidence, 030220 oncology & carcinogenesis, New mutation, Bone Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79842b2afad2c2e7161ec12bf4e87b2Test
https://doi.org/10.1111/jdv.14838Test -
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المؤلفون: Sofia Hadjieconomou, Jenny Hughes
المصدر: Pediatric Dermatology. 37:983-984
مصطلحات موضوعية: Male, Hemangioma, Cavernous, Central Nervous System, medicine.medical_specialty, Pathology, Neurology, Adolescent, Dermatology, Cerebral cavernous malformations, Asymptomatic, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Proto-Oncogene Proteins, medicine, Humans, Genetic Testing, Family history, Genetic testing, medicine.diagnostic_test, business.industry, Spinal cord, Magnetic Resonance Imaging, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, New mutation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096af2074d571bf5778f63d926e75642Test
https://doi.org/10.1111/pde.14296Test -
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المؤلفون: Maria Beatrice de Felici del Giudice, Mariabeatrice Bertolani, Claudio Feliciani, Francesca Satolli, Torello Lotti, Roberto Ricci, Alfredo Zucchi
المصدر: Acta Dermato-Venereologica, Vol 99, Iss 11, Pp 1045-1046 (2019)
مصطلحات موضوعية: Adult, Male, Genotype, Dermoscopy, Dermatology, cutaneous melanoma, Neoplastic Syndromes, Hereditary, Medicine, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, BAP1, Hardware_MEMORYSTRUCTURES, business.industry, Tumor Suppressor Proteins, General Medicine, Middle Aged, BIMTs, RL1-803, Cutaneous melanoma, New mutation, Cancer research, Female, uveal melanoma, business, Ubiquitin Thiolesterase, BRCA1-associated protein 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c65a75fd8d41cdf02ba6feb10fb3ed38Test
https://pubmed.ncbi.nlm.nih.gov/31314123Test -
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المؤلفون: Kanjaksha Ghosh, Kanchan Mishra, Shrimati Shetty, Avani Shah, Parizad Patel
المصدر: Mediterranean Journal of Hematology and Infectious Diseases
Mediterranean Journal of Hematology and Infectious Diseases, Vol 11, Iss 1, Pp e2019018-e2019018 (2019)مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Cryopyrin, Abdominal pain, medicine.medical_specialty, India, Familial Mediterranean fever, Case Report, 03 medical and health sciences, Acute Intermittent Porphyria, 0302 clinical medicine, Paroxysmal attack, medicine, Autoinflammatory syndrome, Stretchable skin, Inflammosome, Acute intermittent porphyria, 030203 arthritis & rheumatology, Porphyria, lcsh:RC633-647.5, business.industry, New mutation, lcsh:Diseases of the blood and blood-forming organs, Hematology, medicine.disease, Autoinflammatory Syndrome, Dermatology, 030104 developmental biology, Infectious Diseases, Hypermobility, medicine.symptom, business, Cutis laxa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4bc4edb13f747a678fc13ce9b6a839bTest
http://europepmc.org/articles/PMC6402545Test -
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المؤلفون: Mehmet Serif Cansever, Tanyel Zubarioglu, Mine Aslan
المساهمون: İÜC, Sağlık Hizmetleri Meslek Yüksekokulu, Tıbbi Hizmetler ve Teknikler Bölümü
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Lysosomal Acid Lipase, LIPA gene, New mutation, medicine, Wolman disease, medicine.disease, business, Dermatology, Gene
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd7520f3499a898e393ec102af9c502Test
https://hdl.handle.net/20.500.11776/10474Test -
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المؤلفون: Gregorio Serra, Federico Zara, Giovanni Corsello, Luca Lagalla, Maria Piccione, Clara Giambrone, Ettore Piro, Vincenzo Antona
المساهمون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)مصطلحات موضوعية: 0301 basic medicine, Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Neurofibromatosis 1, Prevalence, Prognosis, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Mutation, Missense, Disease, 0302 clinical medicine, Genotype, Medicine, Young adult, lcsh:RJ1-570, Cohort, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, Neurofibromatosis, Preschool, business.industry, Research, Retrospective cohort study, lcsh:Pediatrics, medicine.disease, Dermatology, 030104 developmental biology, Genes, Pediatrics, Perinatology and Child Health, Mutation, Missense, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4090aac99e2ecd85815a5681e4f8a51Test
https://pubmed.ncbi.nlm.nih.gov/29618358Test -
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المصدر: Actas Dermo-Sifiliográficas (English Edition). 107:433-435
مصطلحات موضوعية: Genetics, Histology, business.industry, Ichthyosis, Self-Healing Collodion Baby, Dermatology, medicine.disease, Phenotype, Pathology and Forensic Medicine, ALOX12B Gene, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), New mutation, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8e810917a9ec36f0625eea6ce88f09ffTest
https://doi.org/10.1016/j.adengl.2016.03.014Test -
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المؤلفون: A. González-Morán, L. Sempau, T.V.O. Hansen, I. Ruiz, X. Susanna
المصدر: Actas Dermo-Sifiliográficas. 101:637-640
مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Pilosebaceous unit, General Medicine, medicine.disease, Central region, Dermatology, Surgery, Increased risk, Pneumothorax, New mutation, Biopsy, medicine, Family history, business, Lung cysts
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::337a04ca71086cb10390c55d6ca6ca0aTest
https://doi.org/10.1016/j.ad.2010.03.007Test -
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المؤلفون: A. González-Morán, L. Sempau, T.V.O. Hansen, I. Ruiz, X. Susanna
المصدر: Actas Dermo-Sifiliográficas (English Edition). 101:637-640
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Histology, medicine.diagnostic_test, business.industry, Fibrofolliculoma, Dermatology, medicine.disease, Birt–Hogg–Dubé syndrome, Pathology and Forensic Medicine, Pneumothorax, New mutation, Mutation (genetic algorithm), Biopsy, medicine, Family history, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6f5666843e14a68783cd1dde60f23d28Test
https://doi.org/10.1016/s1578-2190Test(10)70686-7