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1دورية أكاديمية
المؤلفون: Kobey Karamendin, Aidyn Kydyrmanov, Yermukhammet Kasymbekov, Saule Asanova, Klara Daulbayeva, Aigerim Seidalina, Elizaveta Khan, Sally M Harrison, Ian M Carr, Simon J Goodman, Alibek Moldakozhayev, Marat Sayatov
المصدر: PLoS ONE, Vol 12, Iss 12, p e0190339 (2017)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan
المصدر: PLoS ONE, Vol 11, Iss 6, p e0157075 (2016)
وصف الملف: electronic resource
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المؤلفون: Lucy F. Stead, Michael D. Jenkinson, Georgette Tanner, Katherine M. Ashton, Andrew Brodbelt, Susan C Short, Azzam Ismail, Sally M. Harrison, Khaja Syed, Ruth Morton, Nora Rippaus, Aruna Chakrabarty, Henry King, Alastair Droop, Alexander F. Bruns
المصدر: International Journal of Cancer. 142:1620-1626
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Mutation, Somatic cell, Recurrent glioblastoma, Cancer, Computational biology, Biology, medicine.disease, medicine.disease_cause, Phenotype, 03 medical and health sciences, 030104 developmental biology, Germline mutation, Oncology, Cancer evolution, Genotype, medicine
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المؤلفون: Philip Quirke, Kate M. Sutton, Laura A. Crinnion, Alexander F. Markham, David T. Bonthron, Christopher M. Watson, Paul Roberts, Sally M. Harrison, Ian M. Carr, David Wallace
المصدر: Laboratory Investigation. 94:1173-1183
مصطلحات موضوعية: Proto-Oncogene Proteins B-raf, COLD-PCR, Genetics, Somatic cell, DNA Mutational Analysis, Genes, erbB-1, Cell Biology, Biology, medicine.disease_cause, Pathology and Forensic Medicine, Proto-Oncogene Proteins p21(ras), Germline mutation, Neoplasms, Proto-Oncogene Proteins, Genotype, ras Proteins, medicine, Humans, Multiplex, KRAS, Molecular Biology, Gene
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المؤلفون: Nick Camm, Sally M. Harrison, Christopher M. Watson, Joanne E. Morgan, Helen Lindsay, Ian M. Carr, David T. Bonthron, Eamonn Sheridan, Graham R. Taylor, Julian Adlard, Ruth Charlton, Christine P. Diggle, Laura A. Crinnion
المصدر: Human Mutation
مصطلحات موضوعية: Informatics, sequence analysis, mutation detection, Interface (computing), Computational biology, Biology, Polymorphism, Single Nucleotide, User-Computer Interface, Neoplasms, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Exome, Genetics (clinical), Exome sequencing, Genetic testing, Unix, medicine.diagnostic_test, Kartagener Syndrome, software, Dyneins, Genetic Variation, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Axonemal Dyneins, Pipeline (software), Identification (information), Codon, Nonsense, Scalability, exome sequencing, Genes, Neoplasm
وصف الملف: application/pdf
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المؤلفون: Agne, Antanaviciute, Belinda, Baquero-Perez, Christopher M, Watson, Sally M, Harrison, Carolina, Lascelles, Laura, Crinnion, Alexander F, Markham, David T, Bonthron, Adrian, Whitehouse, Ian M, Carr
المصدر: RNA (New York, N.Y.). 23(10)
مصطلحات موضوعية: User-Computer Interface, Adenosine, Sequence Analysis, RNA, Bioinformatics, Computational Biology, Software
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3fb9e520e9f955b6e1dd0aaaea5d71e7
https://pubmed.ncbi.nlm.nih.gov/28724534 -
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المؤلفون: Simon J. Goodman, Sally M. Harrison, Ian M. Carr, Aigerim Seidalina, E. Kasymbekov, Marat Sayatov, Saule Asanova, K. Zhumatov, Elizaveta Khan, Aidyn Kydyrmanov, Klara Daulbayeva, Kobey Karamendin
المصدر: Genome Announcements
مصطلحات موضوعية: 0301 basic medicine, Serotype, Whole genome sequencing, biology, viruses, Zoology, Genomics, biology.organism_classification, Genome, Virology, Virus, White (mutation), 03 medical and health sciences, 030104 developmental biology, Goose, biology.animal, Viruses, Genetics, Molecular Biology, Anser
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5ee1159115e5fdacb4371922f9a14f
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المؤلفون: Alexander F. Markham, Sally M. Harrison, Ian M. Carr, David T. Bonthron, Agne Antanaviciute, Christopher M. Watson, Laura A. Crinnion, Carolina Lascelles
المصدر: Bioinformatics
مصطلحات موضوعية: Statistics and Probability, Genotype, ved/biology.organism_classification_rank.species, Databases and Ontologies, Context (language use), Computational biology, Ontology (information science), Biology, computer.software_genre, Biochemistry, Polymorphism, Single Nucleotide, Protein sequencing, Humans, Relevance (information retrieval), Disease, Exome, Model organism, Molecular Biology, Exome sequencing, ved/biology, Computational Biology, Biological Ontologies, Original Papers, Computer Science Applications, Computational Mathematics, Phenotype, Computational Theory and Mathematics, Data mining, Transcriptome, computer, Algorithms
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea92dcb0c4cc8fbaa2c65f612cad99b
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المؤلفون: Agne Antanaviciute, Christopher M. Watson, Sally M. Harrison, Eamonn Sheridan, Carolina Lascelles, David T. Bonthron, Helen Murphy, Melanie Newbould, Ian M. Carr, Audrey Smith, Laura A. Crinnion
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Nonsense mutation, Consanguinity, 030105 genetics & heredity, Biology, MyoD, Bioinformatics, 03 medical and health sciences, Mice, MyoD Protein, Pregnancy, Genetics, Animals, Humans, Exome, Lung, Genetics (clinical), Exome sequencing, Arthrogryposis, Fetal Growth Retardation, perinatal lethal, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, New Loci, Phenotype, 3. Good health, Pedigree, 030104 developmental biology, lung hypoplasia, Aborted Fetus, Mutation, fetal akinesia, Female, exome sequencing, MYOD1
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المؤلفون: Laura A. Crinnion, Sérgio D.J. Pena, Juliana Gurgel-Gianetti, Sally M. Harrison, David T. Bonthron, Ian M. Carr, Agne Antanavicuite, Carolina Lascelles, Catherine Daly, Christopher M. Watson, Alexander F. Markham
المصدر: Human Mutation
مصطلحات موضوعية: Informatics, Genotype, Inheritance Patterns, Biology, Polymorphism, Single Nucleotide, DNA sequencing, 03 medical and health sciences, Consanguinity, Genetics, SNP, Humans, Exome, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, next generation sequencing, 0303 health sciences, software, 030305 genetics & heredity, Chromosome Mapping, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Disease gene identification, SNP genotyping, Pedigree, autozygosity mapping, DNA microarray
وصف الملف: application/pdf