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1دورية أكاديمية
المؤلفون: Bangun, Kristaninta, Kreshanti, Prasetyanugraheni, Tania, Vika, Ariani Aswin, Yulia, Menna, Clara, Aurino, Leorca
المصدر: Cleft Palate Craniofacial Journal; Mar2024, Vol. 61 Issue 3, p527-533, 7p
مصطلحات موضوعية: TOE abnormalities, MOSAICISM, AUDITORY perception testing, EPILEPSY, CLEFT palate, MICROCEPHALY, KARYOTYPES, DEVELOPMENTAL disabilities, CUTANEOUS manifestations of general diseases, CLEFT lip, CHROMOSOME abnormalities, HEALTH care teams, HEARING disorders, COMPUTED tomography, CAFE-au-Lait spots (Disease), INTELLECTUAL disabilities, RARE diseases, EARLY diagnosis, NEUROLOGIC examination, SYMPTOMS
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2دورية أكاديمية
المؤلفون: Romagnuolo, Maurizio, Moltrasio, Chiara, Gasperini, Serena, Marzano, Angelo Valerio, Cambiaghi, Stefano
المصدر: Children; Dec2023, Vol. 10 Issue 12, p1920, 7p
مصطلحات موضوعية: HAIR diseases, SEQUENCE analysis, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS I, ITCHING, CAFE-au-Lait spots (Disease), MUCOPOLYSACCHARIDOSIS
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3
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4دورية أكاديمية
المصدر: Revista Estomatológica Herediana; Vol. 34 No. 1 (2024); 91-96 ; Revista Estomatológica Herediana; Vol. 34 Núm. 1 (2024); 91-96 ; 2225-7616 ; 1019-4355
مصطلحات موضوعية: síndrome de McCune-Albright, displasia fibrosa, manchas café con leche, McCune-Albright syndrome, fibrous dysplasia, café-au-lait spots, manchas café-com-leite
وصف الملف: application/pdf
العلاقة: https://revistas.upch.edu.pe/index.php/REH/article/view/5307/5579Test; https://revistas.upch.edu.pe/index.php/REH/article/view/5307Test
الإتاحة: https://doi.org/10.20453/reh.v34i1.5307Test
https://revistas.upch.edu.pe/index.php/REH/article/view/5307Test -
5دورية أكاديمية
المؤلفون: Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A, Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J, Friedman, Jan M, Gutmann, David H, Kehrer-Sawatzki, Hildegard, Korf, Bruce R, Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A, Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A, Tadini, Gianluca, Ullrich, Nicole J, Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M, Evans, D Gareth, Plotkin, Scott R
المصدر: Genetics in Medicine. 23(8)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Rare Diseases, Clinical Research, Neurofibromatosis, Cafe-au-Lait Spots, Consensus, Genetic Testing, Humans, Neurofibromatosis 1, International Consensus Group on Neurofibromatosis Diagnostic Criteria, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7j03w3x3Test
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6دورية أكاديمية
المؤلفون: F.J. García-Martínez, A. Hernández-Martín
المصدر: Actas Dermo-Sifiliográficas, Vol 114, Iss 3, Pp 187-193 (2023)
مصطلحات موضوعية: Neurofibromatosis type 1, Cafe-au-lait spots, Skin fold freckling, Nevus anemicus, Juvenile xanthogranuloma, Diagnostic criteria, Dermatology, RL1-803, Internal medicine, RC31-1245
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S000173102200922XTest; https://doaj.org/toc/0001-7310Test
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7دورية أكاديمية
المؤلفون: EKER, Nursah, TOKUC, Ayse Gulnur, TUFAN, Burcu TAS, SENAY, Emel
المصدر: Marmara Medical Journal; May2023, Vol. 36 Issue 2, p192-196, 5p
مصطلحات موضوعية: OPTIC nerve diseases, CLINICS, GENETIC testing, DISEASES, NEUROFIBROMATOSIS 1, CAFE-au-Lait spots (Disease)
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8دورية أكاديمية
المؤلفون: KILIC, Mehmet, GUNBEY, Omer, TASKIN, Erdal, DAG, Bunyamin, KUCUK, Elif, GUNBEY, Fatma Betul, SEN, Askin
المصدر: Asthma Allergy Immunology / Astim Allerji Immunoloji; Apr2023, Vol. 21 Issue 1, p3-10, 8p
مصطلحات موضوعية: CLINICAL pathology, ATAXIA telangiectasia, NEVUS, RETROSPECTIVE studies, NEUTROPENIA, HYPOPIGMENTATION, EOSINOPHILIA, LYMPHOPENIA, CAFE-au-Lait spots (Disease)
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9دورية أكاديمية
المؤلفون: Yan, Wupeng, Markegard, Evan, Dharmaiah, Srisathiyanarayanan, Urisman, Anatoly, Drew, Matthew, Esposito, Dominic, Scheffzek, Klaus, Nissley, Dwight V, McCormick, Frank, Simanshu, Dhirendra K
المصدر: Cell reports. 32(3)
مصطلحات موضوعية: K562 Cells, Humans, Neurofibromatosis 1, Cafe-au-Lait Spots, Epidermal Growth Factor, Adaptor Proteins, Signal Transducing, Neurofibromin 1, Guanosine Triphosphate, DNA Mutational Analysis, Signal Transduction, Amino Acid Sequence, Catalytic Domain, Protein Binding, Phosphorylation, Point Mutation, Oncogenes, Proto-Oncogene Proteins p21(ras), HEK293 Cells, Protein Interaction Maps, ErbB Receptors, Protein Domains, Legius syndrome, RAS-RAF-ERK pathway, RASopathy, RasGAP, neurofibromatosis type 1, Cancer, Rare Diseases, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Aetiology, Underpinning research, Generic health relevance, Biochemistry and Cell Biology, Medical Physiology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/88c9x228Test
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10دورية أكاديمية
المؤلفون: Fernandez, Karen S, Turski, Michelle L, Shah, Avanthi Tayi, Bastian, Boris C, Horvai, Andrew, Hardee, Steven, Sweet-Cordero, E Alejandro
المصدر: Cold Spring Harbor molecular case studies. 5(5)
مصطلحات موضوعية: Ewing's sarcoma, multiple cafe-au-lait spots, neurofibromas, Ewings sarcoma
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6dq2j9brTest