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المؤلفون: Mostafa Almasi-Dooghaee, Omid Aryani, Fatemeh Sadat Mirfazeli, Amin Jahanbakhshi, Fatemeh Mohebi
المصدر: Basic and Clinical Neuroscience Journal. 13:893-900
مصطلحات موضوعية: Genetics, Cellular and Molecular Neuroscience, Wolfram syndrome, business.industry, New mutation, medicine, Jump, Neurology (clinical), medicine.disease, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e56afd723fa17b7af04fa871ef9eceddTest
https://doi.org/10.32598/bcn.2021.910.3Test -
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المؤلفون: Jun Guo, Jing Yu, Yu Wang, Zhong-Jie Guo, Rong-Xiang Zhao, Fu Liu, Dan Ren
المصدر: World Journal of Clinical Cases
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lesions outside of the basal ganglia, medicine.diagnostic_test, business.industry, New mutation, Magnetic resonance imaging, macromolecular substances, General Medicine, Irreversible damage to the basal ganglia, Life-threatening symptoms, Basal ganglia, Case report, medicine, Severe β-ketothiolase deficiency, business, β ketothiolase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::167026651d69e49ab28aea4dda2dea5dTest
http://europepmc.org/articles/PMC8567524Test -
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المؤلفون: Dou Shuixiu, Jianping Xu, Jiafu Ou, Faping Cui
المصدر: Advanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, S syndrome, business.industry, echocardiography|marfan syndrome|fbn1 genes|new mutation, General Medicine, Gene mutation, cardiovascular system, Medical technology, Medicine, cardiovascular diseases, R855-855.5, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caaf87471c876035b6f2d64ae711c19bTest
http://www.journaladvancedultrasound.com:81/fileup/2576-2516/PDF/1630472707273-1791981006.pdfTest -
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المؤلفون: Carmen González Mao, Susana Romero Santos, Daisy Castiñeiras Ramos, Cristina Collazo Abal, Francisco Barros Angueira, Emilio C. Pazos Lago
المصدر: Advances in Laboratory Medicine, Vol 2, Iss 4, Pp 567-570 (2021)
مصطلحات موضوعية: business.industry, 030232 urology & nephrology, Medicine (miscellaneous), xanthine dehydrogenase gene, medicine.disease, xanthinuria, Education, 03 medical and health sciences, Medical Laboratory Technology, 0302 clinical medicine, hypouricemia, Xanthine dehydrogenase, Biochemistry, Xanthine Dehydrogenase Gene, 030220 oncology & carcinogenesis, New mutation, Medical technology, Medicine, Identification (biology), Xanthinuria, R855-855.5, Hypouricemia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec051192232672d3609aa9de714d0432Test
https://doi.org/10.1515/almed-2021-0018Test -
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المصدر: Australian Endodontic Journal. 47:343-349
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Dentin dysplasia, 0206 medical engineering, Dentistry, 030206 dentistry, 02 engineering and technology, Pulp stone, medicine.disease, Endodontics, 020601 biomedical engineering, stomatognathic diseases, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Blunt, stomatognathic system, Irreversible pulpitis, New mutation, Dentin, medicine, business, General Dentistry, Pulp necrosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cff1677fe8f2dab3e78252485f75540aTest
https://doi.org/10.1111/aej.12444Test -
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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: Fernando Arribas-Ynsaurriaga, Jorge Nuche, Rafael Salguero-Bodes, Juan F. Delgado, María Valverde-Gómez, Julián Palomino-Doza
المصدر: Revista Española de Cardiología (English Edition). 73:180-183
مصطلحات موضوعية: Poor prognosis, Beta-Myosin, Heavy chain, business.industry, New mutation, Mutation (genetic algorithm), Cancer research, Hypertrophic cardiomyopathy, medicine, Cardiomyopathy, General Medicine, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::06a725b31e37876c609b46d09d056d3cTest
https://doi.org/10.1016/j.rec.2019.07.001Test -
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المؤلفون: Diğdem Bezen, Nimet Pinar Yilmazbas, Biray Erturk
المصدر: European Archives of Medical Research. 35:253-256
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, New mutation, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ceb02eaccec45fdcb345f8281382a56Test
https://doi.org/10.4274/eamr.galenos.2018.23600Test -
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المؤلفون: Filippo Brioschi, Rocco Piazza, Luca Mologni, Elisa Bossi, Ilaria Crespiatico, Carlo Gambacorti-Passerini
المساهمون: Crespiatico, I, Bossi, E, Brioschi, F, Piazza, R, Mologni, L, Gambacorti‐passerini, C
المصدر: Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 1, Pp 71-74 (2020)مصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, resistance, 03 medical and health sciences, 0302 clinical medicine, chronic myeloid leukemia, Internal medicine, Tki resistance, hemic and lymphatic diseases, medicine, genetics, neoplasms, lcsh:R5-920, ABL, Hematology, business.industry, hematology, lcsh:R, Imatinib, General Medicine, TKI, 030220 oncology & carcinogenesis, Molecular Response, New mutation, Mutation (genetic algorithm), Cancer research, genetic, business, lcsh:Medicine (General), Bosutinib, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b70d9a8ef05e88499f044fe79c0014Test
http://europepmc.org/articles/PMC6982521Test -
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المؤلفون: Wen Zhu, Tian-Jiao Wang, Hua Wang, Li-Fang Wu, Yi-Qun Teng, Junguo Chen, Xiao-Lin Liu
المصدر: Immunologic Research. 67:454-459
مصطلحات موضوعية: Male, Liver injury, Pathology, medicine.medical_specialty, X-Linked Hyper IgM Syndrome, Hyper-IgM Immunodeficiency Syndrome, Type 1, business.industry, Hyper-IgM Immunodeficiency Syndrome, CD40LG gene, CD40 Ligand, Immunology, Mutation, Missense, Infant, Locus (genetics), medicine.disease, Amino Acid Substitution, Genetic Loci, New mutation, medicine, Hepatic Insufficiency, Humans, Missense mutation, Interstitial pneumonia, Lung Diseases, Interstitial, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e318257922a6ba071e90929d9d2751Test
https://doi.org/10.1007/s12026-019-09098-4Test