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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 -
42
المؤلفون: Elina Bychkova, E. A. Filippova, N. A. Golubeva, A. V. Markov, L. O. Sangina
المصدر: Russian Journal of Genetics. 56:108-111
مصطلحات موضوعية: 0106 biological sciences, Genetics, 0303 health sciences, CATS, engineering.material, Biology, Hair follicle, 01 natural sciences, Phenotype, Breed, Human genetics, 03 medical and health sciences, medicine.anatomical_structure, Carnelian, New mutation, engineering, medicine, Mc1r gene, 030304 developmental biology, 010606 plant biology & botany
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ab439d6bcdbf16cb3dc087531623be89Test
https://doi.org/10.1134/s1022795420010020Test -
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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 -
44
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 -
45
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 -
46
المؤلفون: Sedeer El-Showk
المصدر: Nature Middle East.
مصطلحات موضوعية: Genetics, New mutation, Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2e8bb69f6fa96cf3e1977f8e98b1df61Test
https://doi.org/10.1038/nmiddleeast.2021.78Test -
47
المؤلفون: Lakshmi Bala, Sandeep Negi, S. Bhatt
المصدر: Journal of Clinical and Diagnostic Research, Vol 15, Iss 8, Pp OE01-OE07 (2021)
مصطلحات موضوعية: Traditional medicine, Coronavirus disease 2019 (COVID-19), business.industry, medicine.drug_class, ginger, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Clinical Biochemistry, General Medicine, medicine.disease, Anti-inflammatory, Vaccination, garlic, Action (philosophy), Pandemic, New mutation, cytokine storm, Medicine, clove, curcumin, business, Cytokine storm, severe acute respiratory syndrome coronavirus 2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae21d91fc61035b774cccccfbc4e736Test
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المؤلفون: Hector Vera Cuesta, Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021مصطلحات موضوعية: Mutation, Medicine (General), NAGLU, business.industry, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Sanfilippo syndrome, medicine.disease, medicine.disease_cause, Compound heterozygosity, Phenotype, R5-920, Mucopolysaccharidosis III, Pediatrics, Perinatology and Child Health, Immunology, medicine, business, Gene, Genetics (clinical), hirsutism, new mutation
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223ebTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest -
49دورية أكاديمية
المؤلفون: KARIMZADEH, Parvaneh, KHAYYATZADEH, Simin, ESMAIL NEJAD, Shaghayegh Sadat, HOUSHMAND, Masoud, GHFORANI, MOHAMMAD
المصدر: Iranian Journal of Child Neurology; Vol. 11 No. 1 (2017): winter; 78-81 ; 2008-0700 ; 1735-4668
مصطلحات موضوعية: Ataxia-oculomotor apraxia, AOA1, APTX gene, New mutation
وصف الملف: application/pdf
العلاقة: https://journals.sbmu.ac.ir/ijcn/article/view/11820/11821Test; https://journals.sbmu.ac.ir/ijcn/article/view/11820Test
الإتاحة: https://doi.org/10.22037/ijcn.v11i1.11820Test
https://journals.sbmu.ac.ir/ijcn/article/view/11820Test -
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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