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1دورية أكاديمية
المؤلفون: Simon Berhe, Matthew M. Heeney, Dean R. Campagna, John F. Thompson, Eric J. White, Tristen Ross, Roy W. A. Peake, Jeffery D. Hanrahan, Vilmarie Rodriguez, Deborah L. Renaud, Mrinal S. Patnaik, Eugenia Chang, Sylvia S. Bottomley, Mark D. Fleming
المصدر: Haematologica, Vol 103, Iss 12 (2018)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Deborah L. Renaud, Eugenia Chang, Roy W A Peake, Vilmarie Rodriguez, Dean R. Campagna, Mark D. Fleming, John F. Thompson, Simon Berhe, Matthew M. Heeney, Eric J. White, Jeffery D. Hanrahan, Mrinal S. Patnaik, Sylvia S. Bottomley, Tristen Ross
المصدر: Haematologica. 103:e561-e563
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Anemia, DNA Mutational Analysis, Mutation, Missense, DNA, Mitochondrial, Gastroenterology, 03 medical and health sciences, Recurrence, Internal medicine, Humans, Point Mutation, Medicine, Missense mutation, Clinical severity, In patient, Child, Online Only Articles, Genetic Association Studies, biology, business.industry, Point mutation, Infant, Genetic Diseases, X-Linked, Syndrome, Hematology, Mitochondrial Proton-Translocating ATPases, medicine.disease, Heteroplasmy, Anemia, Sideroblastic, 030104 developmental biology, Mutation (genetic algorithm), MT-ATP6, biology.protein, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df51351b1f885469ad223650524c8520
https://doi.org/10.3324/haematol.2018.199109 -
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المؤلفون: Fleming, Darcy C, Dean R. Campagna, John F. Thompson, Tristen Ross, Gault C, Anastasia Nikiforov, Eric J. White, Rebecca Batorsky, Lopez E
مصطلحات موضوعية: 0303 health sciences, Mitochondrial DNA, Genomics, Computational biology, Biology, Human mitochondrial genetics, 6. Clean water, Heteroplasmy, 3. Good health, Gene expression profiling, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Nanopore sequencing, International HapMap Project, 030217 neurology & neurosurgery, DNA, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::894c35df635178c12723e94f6f6552fc
https://doi.org/10.1101/222109 -
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المؤلفون: Gregory J. Tsongalis, Ahmad N. Abou Tayoun, Laura J. Tafe, Trevor J. Pugh, Timothy T. Harkins, Wendy A. Wells, Minita Shah, Christopher I. Amos, Clarence Lee, Tristen Ross, Christopher D. Tunkey
المصدر: Clinical Chemistry. 59:1481-1488
مصطلحات موضوعية: Clinical Biochemistry, Population, Gene Dosage, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, medicine.disease_cause, Polymerase Chain Reaction, Sensitivity and Specificity, Article, DNA sequencing, Cell Line, medicine, Humans, education, Genotyping, Gene, Genetics, Mutation, education.field_of_study, Biochemistry (medical), Sequence Analysis, DNA, Ion semiconductor sequencing, Cystic fibrosis transmembrane conductance regulator, biology.protein, Personal genomics
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المؤلفون: Tristen Ross, Anastasia Nikiforov, Rebecca Batorsky, Evan Mauceli, Marcia M. Nizzari, Niru Chennagiri, Alexander Frieden, Patrice M. Milos, Timothy W. Yu, Eric J. White, Daniel S. Lieber, Lovelace J. Luquette, Nichole Napolitano, Va Lip, John F. Thompson, Sherry Hansen, David H. Margulies, Edgardo Lopez
المصدر: Scientific Reports
مصطلحات موضوعية: 0301 basic medicine, computer.software_genre, Polymerase Chain Reaction, Sensitivity and Specificity, DNA sequencing, Article, law.invention, 03 medical and health sciences, Target capture, law, Medicine, Molecular diagnostic techniques, Humans, Exome, Polymerase chain reaction, Multidisciplinary, business.industry, High-Throughput Nucleotide Sequencing, Ion semiconductor sequencing, Sequence Analysis, DNA, 030104 developmental biology, Molecular Diagnostic Techniques, Data mining, business, computer
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المؤلفون: Marc Hulsman, Henne Holstege, Daoud Sie, Martijn H. Brugman, Jue Lin, Wayne Pfeiffer, Mark A. Miller, Clarence Lee, Gert Holstege, Frank J. T. Staal, Tristen Ross, Thomas J. Nicholas, Samuel Levy, Marcel J. T. Reinders, Hanne Meijers-Heijboer, Timothy T. Harkins, Erik A. Sistermans, Bauke Ylstra
المساهمون: Human genetics, Pathology, CCA - Oncogenesis, NCA - neurodegeneration
المصدر: Genome Research, 24(5), 733-742. Cold Spring Harbor Laboratory Press
Genome Research, 24(5), 733-742
Holstege, H, Pfeiffer, W, Sie, D L S, Hulsman, M, Nicholas, T J, Lee, C C, Ross, T, Lin, J, Miller, M A, Ylstra, B, Meijers-Heijboer, H E, Brugman, M H, Staal, F J T, Holstege, G, Reinders, M J T, Harkins, T T, Levy, S & Sistermans, E A 2014, ' Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis ', Genome Research, vol. 24, no. 5, pp. 733-742 . https://doi.org/10.1101/gr.162131.113
Genome Researchمصطلحات موضوعية: Somatic cell, Longevity, Biology, medicine.disease_cause, Somatic evolution in cancer, Clonal Evolution, Germline mutation, Gene Frequency, Genetics, medicine, Leukocytes, Humans, Cell Lineage, Gene, Genetics (clinical), Conserved Sequence, Telomere Shortening, Aged, 80 and over, Mutation, Genome, Research, Hematopoietic stem cell, Telomere, Hematopoietic Stem Cells, AT Rich Sequence, Hematopoiesis, Haematopoiesis, medicine.anatomical_structure, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df1735914d51a5e7b50c829085e8588
https://research.vumc.nl/en/publications/4a78e93b-a0c4-42af-848a-430b04b653e1 -
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المؤلفون: Timothy T. Harkins, Gabrielle Raia, Christopher D. Tunkey, Minita Shah, Laura J. Tafe, Elizabeth Levandowsky, Wendy A. Wells, Stephen F. McLaughlin, Gregory J. Tsongalis, Christopher I. Amos, Clarence Lee, Tristen Ross, Ahmad N. Abou Tayoun, Jessica Spangler, Matthew Dindinger
المصدر: The FASEB Journal. 27
مصطلحات موضوعية: Mutational analysis, Genetics, Computational biology, Biology, Molecular Biology, Biochemistry, DNA sequencing, Biotechnology
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