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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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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: 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 -
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المؤلفون: Mei Guan, Xue-lin Dou, Ningning Li, Xiaohua Shi, Chunmei Bai, Xin Gao, Lianpeng Chang, Yanping Zhou, Zhao Sun, Hongyan Ying, Lin Zhao, Ya-Juan Shao, Ning Jia, Jianfeng Zhou, Yuejuan Cheng
المصدر: BMC Cancer
BMC Cancer, Vol 21, Iss 1, Pp 1-10 (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Colorectal cancer, medicine.medical_treatment, Kaplan-Meier Estimate, Circulating Tumor DNA, 0302 clinical medicine, FOLFOX, Antineoplastic Combined Chemotherapy Protocols, RC254-282, Metastatic colorectal cancer, New mutation, Hazard ratio, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Fluorouracil, 030220 oncology & carcinogenesis, FOLFIRI, Female, Colorectal Neoplasms, Circulating tumour DNA, medicine.drug, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Next generation sequencing, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Aged, Neoplasm Staging, Chemotherapy, business.industry, Research, Biomarker, medicine.disease, Oxaliplatin, Irinotecan, 030104 developmental biology, Mutation, Tomography, X-Ray Computed, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbf1b6459822ab0a90c3b772868f37eTest
https://doi.org/10.1186/s12885-021-08309-2Test -
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المؤلفون: Francisco Barros-Angueira, Tamara Lourido-Cebreiro, María Luisa Pérez del Molino, Ana Casal-Mouriño, Ana Palacios-Bartolomé, Luis Valdés, Tara Pereiro-Brea
المصدر: Archivos de Bronconeumología. 56:60-62
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Internal medicine, New mutation, medicine, MEDLINE, General Medicine, business, medicine.disease, Gastroenterology, Cystic fibrosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::831e945a262276cbf12b26ba6f122b85Test
https://doi.org/10.1016/j.arbres.2019.07.011Test -
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المؤلفون: Marcelo Leonardo Nenkies, Diana Noemi Garcia de Paoletti, Hugo A. Guglielmone, Antonio Girolami, Silvia Ferrari
المصدر: Cardiovascular & Hematological Disorders-Drug Targets. 19:169-173
مصطلحات موضوعية: Pharmacology, Pediatrics, medicine.medical_specialty, business.industry, Factor X, Heterozygote advantage, Hematology, General Medicine, Factor X deficiency, Compound heterozygosity, Asymptomatic, chemistry.chemical_compound, Exon, chemistry, Mutation (genetic algorithm), New mutation, medicine, Molecular Medicine, medicine.symptom, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9cfacc9aadff857b6a58b4483749bcd8Test
https://doi.org/10.2174/1871529x19666181212103944Test