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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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المؤلفون: Dawei Jiang, Hongli Du, Shuhua Li, Meiling Hu, Jerome R Lon, Wei Liu, Binbin Xi, Yuting Huang, Yuhuan Meng, Yimo Qu, Shudai Lin, Lizhen Huang, Yunmeng Bai
المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 1976-1985 (2021)
Computational and Structural Biotechnology Journalمصطلحات موضوعية: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Biophysics, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Epidemic trends, Genetics, Key mutations, 030304 developmental biology, ComputingMethodologies_COMPUTERGRAPHICS, 0303 health sciences, SARS-CoV-2, Haplotype, Automated tool, Pathogenicity, Computer Science Applications, Candidate key, 030220 oncology & carcinogenesis, New mutation, Mutation (genetic algorithm), Key (cryptography), TP248.13-248.65, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22ad809cb934c122dd1cb5313719ea2Test
http://www.sciencedirect.com/science/article/pii/S2001037021001082Test -
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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: 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: 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: Virginia Fano, Karen E. Heath, Mariana del Pino, David Medino-Martín, Abel Gomez, Miriam Aza-Carmona, María Gabriela Obregon
المصدر: J Pediatr Genet
مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, 030305 genetics & heredity, medicine.disease, Sitting height, 03 medical and health sciences, Shox gene, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, New mutation, Cohort, Medicine, SHOX Deficiency, Growth delay, business, Léri–Weill dyschondrosteosis, 030217 neurology & neurosurgery, Genetics (clinical), Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b503a5e02233843fe4d4c7ec1e2c6331Test
https://doi.org/10.1055/s-0039-1691788Test -
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المؤلفون: M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón
المصدر: Neuromuscular Disorders. 28:881-884
مصطلحات موضوعية: Male, 0301 basic medicine, Bioinformatics, Compound heterozygosity, Genetic analysis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Gene, Genetics (clinical), Myasthenic Syndromes, Congenital, Muscle Weakness, Symporters, business.industry, Infant, Newborn, Congenital myasthenic syndrome, medicine.disease, Choline transporter, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, Neurology (clinical), Differential diagnosis, Respiratory Insufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c3cd92b125b1a458d7b30f02ec35eaTest
https://doi.org/10.1016/j.nmd.2018.06.020Test -
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المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test -
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المؤلفون: George Nesr, Letizia Foroni, Simone Claudiani, Chloe Hayden, Pierre Foskett, Kathy Dominy, Jamshid S. Khorashad, Jane F. Apperley, Andrew J. Innes, Afzal Khan, Richard Szydlo, Dragana Milojkovic
المصدر: British journal of haematologyReferences. 193(2)
مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, Blast Crisis, medicine.medical_treatment, Dasatinib, Fusion Proteins, bcr-abl, Comorbidity, Chronic myeloid leukaemia, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Nitriles, medicine, Humans, In patient, Adverse effect, Protein Kinase Inhibitors, Aged, Retrospective Studies, Aged, 80 and over, Aniline Compounds, Drug Tapering, business.industry, Remission Induction, Hematology, Middle Aged, respiratory tract diseases, Clinical Practice, Pyrimidines, Treatment Outcome, 030220 oncology & carcinogenesis, New mutation, Mutation, Imatinib Mesylate, Quality of Life, Quinolines, Dose reduction, Female, Safety, business, 030215 immunology, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4d5ddff497ddb437bf93ce09b5c2f8Test
https://pubmed.ncbi.nlm.nih.gov/33368155Test -
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المؤلفون: Shirin Farjadian, Giovanni Romeo, Francesco Bonatti, A. Soriano, Claudio Graziano, Antonio Percesepe, Mozhgan Moghtaderi, Michele Reina, Alessia Adorni, Davide Martorana
المصدر: Reumatismo, Vol 71, Iss 2 (2019)
مصطلحات موضوعية: Male, lcsh:Internal medicine, MEFV gene, Familial Mediterranean fever, lcsh:Medicine, Gene mutation, Iran, medicine.disease_cause, Pyrin domain, 03 medical and health sciences, Exon, 0302 clinical medicine, Rheumatology, medicine, Humans, 030212 general & internal medicine, Child, lcsh:RC31-1245, Gene, new mutation, 030203 arthritis & rheumatology, Genetics, Mutation, business.industry, lcsh:R, Pyrin, medicine.disease, MEFV, New mutation, autoinflammatory disorders, business, Pyrin protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7614f776cb9e7547814c827bd438f0fcTest
https://www.reumatismo.org/index.php/reuma/article/view/1141Test