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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: 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: Alessandro Malandrini, Anna Rubegni, Maria Teresa Dotti, Teresa Anna Cantisani, Andrea Mignarri, Claudia Nesti, Antonio Federico, Niccola Funel, Elena Cardaioli, Filippo M. Santorelli
المصدر: Biochemical and Biophysical Research Communications. 500:158-162
مصطلحات موضوعية: Adult, 0301 basic medicine, Mitochondrial DNA, tRNATrp, Mitochondrial disease, Biophysics, Epilepsies, Myoclonic, Epilepsies, 030105 genetics & heredity, Biology, Trp, Biochemistry, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Retinitis pigmentosa, medicine, Humans, Genetic Predisposition to Disease, Vascular Calcification, Tomography, Molecular Biology, Genetics, Base Sequence, mtDNA, MT-TW gene, New mutation, DNA, Sequence Analysis, DNA, Cell Biology, RNA, Transfer, Trp, medicine.disease, Female, Mutation, Retinitis Pigmentosa, Tomography, X-Ray Computed, MT-TW, Heteroplasmy, X-Ray Computed, Transfer, Mitochondrial respiratory chain, Mutation (genetic algorithm), RNA, Myoclonic, Sequence Analysis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4908310ffbc2c194bdb0488778a5c4d4Test
https://doi.org/10.1016/j.bbrc.2018.04.009Test -
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المؤلفون: Panlai Shi, Conghui Wang, Rui Li, Xiangdong Kong
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Adult, Parents, copy number variations (CNVs), 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, lcsh:QH426-470, endocrine system diseases, 030105 genetics & heredity, Biology, CNV‐seq, Young Adult, 03 medical and health sciences, Fetus, Likely benign, Pregnancy, Gene Duplication, mental disorders, Gene duplication, Genetics, Humans, Clinical significance, Copy-number variation, Molecular Biology, Uncertain significance, Genetics (clinical), Likely pathogenic, parental origin, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Original Articles, clinical interpretation, lcsh:Genetics, 030104 developmental biology, New mutation, Amniocentesis, Female, Original Article, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acae10248934d7e1bd9aba8473dacba3Test
https://doi.org/10.1002/mgg3.944Test -
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المؤلفون: Carlos González Oller, Raimundo G. del Moral, Mercedes Caba Molina, M. Adoración Martín-Gómez, Coto Eliecer
المصدر: Nefrología (English Edition). 39:309-311
مصطلحات موضوعية: Adult, Genetics, Tamm–Horsfall protein, biology, business.industry, Hyperuricemia, Pedigree, HYPERURICAEMIC NEPHROPATHY, Nephrology, Mutation, Uromodulin, New mutation, biology.protein, Humans, Medicine, Female, Kidney Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73cb652ad6e859174848b6263d9c0fdTest
https://doi.org/10.1016/j.nefroe.2018.09.004Test -
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المؤلفون: Stephen O. Brennan, Darrell Wang, Campbell R. Sheen, Mark Horridge
المصدر: Hemoglobin. 41:140-143
مصطلحات موضوعية: Adult, Lysis, Protein Stability, Chemistry, Hemoglobins, Abnormal, Protein subunit, Biochemistry (medical), Clinical Biochemistry, Hematology, Molecular biology, Phenotype, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation, New mutation, Humans, Female, Hb Amsterdam, Hemoglobin, Gene, Genetics (clinical), 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bbe307f4d1f97bc81cc34ea015a2d60Test
https://doi.org/10.1080/03630269.2017.1311911Test -
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المؤلفون: Christian R. Andres, Patrick Vourc'h, Arnaud Lacour, Stéphane Beltran, Philippe Couratier, Hélène Blasco, Philippe Corcia, Veronique Danel
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 18:298-301
مصطلحات موضوعية: Adult, Models, Molecular, 0301 basic medicine, Neural Conduction, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Juvenile, Amino Acid Sequence, Amyotrophic lateral sclerosis, Gene, Genetics, Amyotrophic Lateral Sclerosis, C-Terminal Amino Acid, medicine.disease, 030104 developmental biology, Neurology, Mutation, New mutation, Disease Progression, RNA-Binding Protein FUS, Female, Bulbar onset, Neurology (clinical), Respiratory Insufficiency, Novel mutation, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a76ec78625ced39bc203072eb69e28Test
https://doi.org/10.1080/21678421.2016.1265564Test -
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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 -
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المؤلفون: Luis Enrique Lezcano Gort, Zineb Kounka, María Victoria Mogollón Jiménez, Lorenzo Monserrat, Benjamín Roque Rodríguez, José Javier Gómez Barrado
المصدر: Revista espanola de cardiologia (English ed.). 73(4)
مصطلحات موضوعية: Genetics, Adult, Male, Aortic Aneurysm, Thoracic, business.industry, DNA Mutational Analysis, General Medicine, DNA, Actins, Pedigree, Aortic Dissection, New mutation, Mutation, Medicine, ACTA2 gene, Humans, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f53de8edd0baff357be181c28d3c0956Test
https://pubmed.ncbi.nlm.nih.gov/31879232Test -
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المؤلفون: Qingyu Wang, Yonggen Zhang, Hongxiang Ding, Ping Ma, Yingyu Wang
المصدر: Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 30(2)
مصطلحات موضوعية: Adult, Models, Molecular, Heterozygote, Protein Folding, Factor XI Deficiency, DNA Mutational Analysis, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, 03 medical and health sciences, 0302 clinical medicine, Asian People, Missense mutation, Humans, Gene, Factor XI, Menorrhagia, Heterozygous mutation, Genetics, Delayed wound healing, Wound Healing, Heterozygote advantage, Hematology, General Medicine, Pedigree, New mutation, Codon, Terminator, Female, Novel mutation, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689b96ebf6847a559f8e0448e1bc42b6Test
https://pubmed.ncbi.nlm.nih.gov/30720488Test