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1
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: 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: Maria Beatrice de Felici del Giudice, Mariabeatrice Bertolani, Claudio Feliciani, Francesca Satolli, Torello Lotti, Roberto Ricci, Alfredo Zucchi
المصدر: Acta Dermato-Venereologica, Vol 99, Iss 11, Pp 1045-1046 (2019)
مصطلحات موضوعية: Adult, Male, Genotype, Dermoscopy, Dermatology, cutaneous melanoma, Neoplastic Syndromes, Hereditary, Medicine, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, BAP1, Hardware_MEMORYSTRUCTURES, business.industry, Tumor Suppressor Proteins, General Medicine, Middle Aged, BIMTs, RL1-803, Cutaneous melanoma, New mutation, Cancer research, Female, uveal melanoma, business, Ubiquitin Thiolesterase, BRCA1-associated protein 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c65a75fd8d41cdf02ba6feb10fb3ed38Test
https://pubmed.ncbi.nlm.nih.gov/31314123Test -
4دورية أكاديمية
المؤلفون: Corsello G., Antona V., Serra G., Zara F., Giambrone C., Lagalla L., Piccione M., Piro E.
المساهمون: Corsello, G., Antona, V., Serra, G., Zara, F., Giambrone, C., Lagalla, L., Piccione, M., Piro, E.
مصطلحات موضوعية: Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factor, Child, Preschool, Cohort Studie, DNA Mutational Analysi, Female, Genes, Neurofibromatosis 1, Genetic Association Studie, Genetic Predisposition to Disease, Human, Italy, Male, Middle Aged, Prevalence, Prognosi, Retrospective Studie, Risk Assessment, Sex Factor, Young Adult, Mutation, Missense
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29618358; info:eu-repo/semantics/altIdentifier/wos/WOS:000429411200002; volume:44; firstpage:45; lastpage:46; numberofpages:2; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11567/1025754Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044968071
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المؤلفون: Sara Gómez Rodríguez, Cristina Navea Aguilera, Isabel Pavón de Paz, Belén Gil Fournier, María Soraya Ramiro León
المصدر: Endocrinología y Nutrición (English Edition). 63:367-369
مصطلحات موضوعية: Male, Reproductive Techniques, Assisted, Genetic counseling, Mutation, Missense, Genetic Counseling, Collagen Type I, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Point Mutation, 030212 general & internal medicine, Young adult, Genes, Dominant, Genetics, business.industry, Point mutation, Infant, Newborn, Amino acid substitution, Middle Aged, Osteogenesis Imperfecta, medicine.disease, Infant newborn, Pedigree, Collagen Type I, alpha 1 Chain, Amino Acid Substitution, Osteogenesis imperfecta, New mutation, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90232ac72d2d5bc745398f5d1bff55cTest
https://doi.org/10.1016/j.endoen.2016.08.004Test -
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المؤلفون: Gregorio Serra, Federico Zara, Giovanni Corsello, Luca Lagalla, Maria Piccione, Clara Giambrone, Ettore Piro, Vincenzo Antona
المساهمون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)مصطلحات موضوعية: 0301 basic medicine, Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Neurofibromatosis 1, Prevalence, Prognosis, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Mutation, Missense, Disease, 0302 clinical medicine, Genotype, Medicine, Young adult, lcsh:RJ1-570, Cohort, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, Neurofibromatosis, Preschool, business.industry, Research, Retrospective cohort study, lcsh:Pediatrics, medicine.disease, Dermatology, 030104 developmental biology, Genes, Pediatrics, Perinatology and Child Health, Mutation, Missense, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4090aac99e2ecd85815a5681e4f8a51Test
https://pubmed.ncbi.nlm.nih.gov/29618358Test -
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المصدر: The breast journal. 24(3)
مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, medicine.medical_treatment, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, Targeted therapy, Breast Neoplasms, Male, 03 medical and health sciences, 0302 clinical medicine, Lymphocytes, Tumor-Infiltrating, Internal medicine, Internal Medicine, Medicine, Humans, Uncertain significance, Gene, Aged, business.industry, Tumor-infiltrating lymphocytes, Genetic Variation, Middle Aged, 030104 developmental biology, Atm gene, 030220 oncology & carcinogenesis, New mutation, Cancer research, T-stage, Surgery, Female, Breast Cancer Genetics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93676c471a11f00a4a22f8cedae212efTest
https://pubmed.ncbi.nlm.nih.gov/28986972Test -
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المؤلفون: Darío García-de-Viedma, María J. Alonso, Marta Herranz, Ángela Menéndez, Juan J. Palacios, Miguel Martínez-Lirola, Susana Martínez, Emilio Bouza
المصدر: Tuberculosis. 93:664-667
مصطلحات موضوعية: Male, Microbiology (medical), Tuberculosis, medicine.drug_class, Molecular Sequence Data, Immunology, Antitubercular Agents, Microbial Sensitivity Tests, Biology, Monoclonal antibody, Microbiology, Mycobacterium tuberculosis, Drug Resistance, Bacterial, Isoniazid, medicine, Humans, Tuberculosis, Pulmonary, Base Sequence, Middle Aged, biology.organism_classification, medicine.disease, Virology, Infectious Diseases, Mutation, Mutation (genetic algorithm), New mutation, 3-Oxoacyl-(Acyl-Carrier-Protein) Reductase, Sequence Alignment, After treatment, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb03cfddac64f2c46be01d76de901942Test
https://doi.org/10.1016/j.tube.2013.07.003Test -
9Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis
المؤلفون: Bernard Dan, Bernard Dachy, Alionka Bostan, Gerald Glibert
المصدر: Autonomic Neuroscience. 170:70-72
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mitochondrial DNA, Pathology, medicine.medical_specialty, Gastroparesis, Mitochondrial Diseases, DNA-Directed DNA Polymerase, DNA, Mitochondrial, Polyneuropathies, Cellular and Molecular Neuroscience, Dysarthria, Skeletal pathology, Humans, Medicine, Muscle, Skeletal, Ataxia Neuropathy Spectrum, Genetics, Ophthalmoplegia, Endocrine and Autonomic Systems, business.industry, Middle Aged, Mitochondrial Proton-Translocating ATPases, medicine.disease, DNA Polymerase gamma, Mutation, New mutation, Ataxia, Female, Neurology (clinical), medicine.symptom, business, Novel mutation, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044d9b7c8f8a64cc1ba6b20b1bda2530Test
https://doi.org/10.1016/j.autneu.2012.06.002Test -
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المؤلفون: Juris J. Liepnieks, Dennis W. Dickson, Merrill D. Benson
المصدر: Amyloid. 18:160-162
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, biology, business.industry, Amyloidosis, nutritional and metabolic diseases, Middle Aged, medicine.disease, nervous system diseases, Hydrocephalus, Transthyretin, Meninges, Mutation, New mutation, Mutation (genetic algorithm), Internal Medicine, medicine, biology.protein, Humans, Prealbumin, Dementia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e170d4e43db6dd908b4e9c4ea90ac44Test
https://doi.org/10.3109/13506129.2011.574354060Test