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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: 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: 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: 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 -
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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