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

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

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:USP

مصطلحات 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

المؤلفون: Lavrentii G. Danilov, Andrew G. Matveenko, Varvara E. Ryzhkova, Mikhail V. Belousov, Olga I. Poleshchuk, Daria V. Likholetova, Petr A. Sokolov, Nina A. Kasyanenko, Andrey V. Kajava, Galina A. Zhouravleva, Stanislav A. Bondarev

المساهمون: Centre de recherche en Biologie Cellulaire (CRBM), Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), St Petersburg State University (SPbU)

المصدر: Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience, Frontiers Media, 2019, 12, pp.274. ⟨10.3389/fnmol.2019.00274⟩
Frontiers in Molecular Neuroscience, Vol 12 (2019)

مصطلحات موضوعية: 0301 basic medicine, Amyloid, In silico, [SDV]Life Sciences [q-bio], Saccharomyces cerevisiae, macromolecular substances, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, medicine.disease_cause, Fibril, lcsh:RC321-571, prion, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Molecular Biology, Inhibitory effect, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, ArchCandy, ComputingMilieux_MISCELLANEOUS, chemistry.chemical_classification, Mutation, biology, Chemistry, [PSI+], amyloid, SUP35 mutation, biology.organism_classification, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Amino acid, 030104 developmental biology, New mutation, Biophysics, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40b4b2ce532f3775bb300419ae6b4acbTest
https://hal.umontpellier.fr/hal-02414139/file/fnmol-12-00274.pdfTest

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

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 Medicine

مصطلحات 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

المؤلفون: Ana Maria Reis Ferreira, Felipe Gomes Ferreira Padilha, Liane de Castro, Kênia Balbi El-Jaick, Aline dos Santos Moreira

المصدر: Journal of Equine Science. 29:21-24

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Genetics, biology, Equine, Myostatin, 01 natural sciences, Genomic databases, Breed, Genetic profile, 03 medical and health sciences, 030104 developmental biology, New mutation, biology.protein, Gene, Selection (genetic algorithm), 010606 plant biology & botany, Genetic association

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3438d16df79d9d65c8843f228ba4261eTest
https://doi.org/10.1294/jes.29.21Test

المؤلفون: Miguel A. Durán-Olivencia, Serafim Kalliadasis

المساهمون: Ralph, T, Stephen, B, Scott, A, Engineering & Physical Science Research Council (EPSRC)

المصدر: Vaccines
Vaccines, Vol 9, Iss 735, p 735 (2021)

مصطلحات موضوعية: 0301 basic medicine, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Drug Discovery, Critical threshold, Development economics, Economics, medicine, Pharmacology (medical), Current wave, Coronavirus, Pharmacology, SARS-CoV-2, Communication, COVID-19, Quarter (United States coin), Vaccination, 030104 developmental biology, Infectious Diseases, Vaccination Campaigns, New mutation, SIR, Medicine, Business, Epidemic model, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7385de3888df635f5cd4bee92fa6d565Test
https://doi.org/10.3390/vaccines9070735Test

المؤلفون: Juana Pelegrín Díaz, Lorenzo Montserrat Iglesias, Ariadna Ayerza Casas, Esther Aurensanz Clemente, Cecilia García Lasheras, Feliciano Jesús Ramos Fuentes, Inés Bueno Martínez, Pablo Ruiz Frontera

المصدر: Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Genetics, Familial Hypertrophic Cardiomyopathy, business.industry, Hypertrophic cardiomyopathy, myosin‐binding protein C, Case Report, Case Reports, General Medicine, Disease, 030204 cardiovascular system & hematology, hypertrophic cardiomyopathy, medicine.disease, 03 medical and health sciences, MYH7, 030104 developmental biology, 0302 clinical medicine, Myosin-binding protein C, New mutation, Medicine, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c804ae18eccc8af82b059e067e42b4fTest
https://doi.org/10.1002/ccr3.832Test

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