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1دورية أكاديمية
المؤلفون: Alexia Cardona, Luca Pagani, Tiago Antao, Daniel J Lawson, Christina A Eichstaedt, Bryndis Yngvadottir, Ma Than Than Shwe, Joseph Wee, Irene Gallego Romero, Srilakshmi Raj, Mait Metspalu, Richard Villems, Eske Willerslev, Chris Tyler-Smith, Boris A Malyarchuk, Miroslava V Derenko, Toomas Kivisild
المصدر: PLoS ONE, Vol 9, Iss 5, p e98076 (2014)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Aylwyn Scally, Bryndis Yngvadottir, Yali Xue, Qasim Ayub, Richard Durbin, Chris Tyler-Smith
المصدر: PLoS ONE, Vol 8, Iss 6, p e65066 (2013)
وصف الملف: electronic resource
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المؤلفون: Avgi, Andreou, Bryndis, Yngvadottir, Laia, Bassaganyas, Graeme, Clark, Ezequiel, Martin, James, Whitworth, Alex J, Cornish, Richard S, Houlston, Philip, Rich, Catherine, Egan, Shirley V, Hodgson, Anne Y, Warren, Katie, Snape, Eamonn R, Maher
المصدر: Human Molecular Genetics. 31:2728-2737
مصطلحات موضوعية: von Hippel-Lindau Disease, endocrine system diseases, Ubiquitin-Protein Ligases, Elongin, General Medicine, urologic and male genital diseases, Kidney Neoplasms, female genital diseases and pregnancy complications, Von Hippel-Lindau Tumor Suppressor Protein, Genetics, Humans, Hypoxia, Carcinoma, Renal Cell, neoplasms, Molecular Biology, Genetics (clinical), Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed2dbac6ae84910bf40ffce69ccc2d1
https://doi.org/10.1093/hmg/ddac066 -
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المؤلفون: Bryndis Yngvadottir, Avgi Andreou, Laia Bassaganyas, Alexey Larionov, Alex J Cornish, Daniel Chubb, Charlie N Saunders, Philip S Smith, Huairen Zhang, Yasemin Cole, Genomics England Research Consortium, James Larkin, Lisa Browning, Samra Turajlic, Kevin Litchfield, Richard S Houlston, Eamonn R Maher
المصدر: Human molecular genetics. 31(17)
مصطلحات موضوعية: Male, General Medicine, urologic and male genital diseases, female genital diseases and pregnancy complications, Kidney Neoplasms, Germ Cells, Genetics, Humans, Female, Genetic Predisposition to Disease, Molecular Biology, Carcinoma, Renal Cell, Genetics (clinical), Germ-Line Mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae18168d8a1114a78db33ca31f70fdb
https://pubmed.ncbi.nlm.nih.gov/35441217 -
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المؤلفون: Diana Walsh, Graeme R. Clark, Ezequiel Martin, Neil V. Morgan, Louise Tee, Hannah Titheradge, Evan Reid, Mary O'Driscoll, Eamonn R. Maher, Bryndis Yngvadottir
المساهمون: Martin, Ezequiel [0000-0002-0051-8868], Reid, Evan [0000-0003-1623-7304], Maher, Eamonn R [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Brain Communications
مصطلحات موضوعية: 0301 basic medicine, Genetics, cerebral palsy, business.industry, General Engineering, autosomal recessive, medicine.disease, inherited, Cerebral palsy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Spastic cerebral palsy, Genetic linkage, Paralysis, Spastic, Missense mutation, Medicine, Original Article, medicine.symptom, business, 030217 neurology & neurosurgery, Loss function, Exome sequencing
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963925c09b25fd4fb0d71debf31d4f84
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المؤلفون: Joseph Wee, Toomas Kivisild, Bryndis Yngvadottir, Pradiptajati Kusuma, S M Abdullah, Tiago Antao, Denis Pierron, Eadaoin Harney, Nicolas Brucato, Thierry Letellier, Cristina Castillo, Luca Pagani, François-Xavier Ricaut, Alexander Mörseburg, Mait Metspalu, Alexia Cardona, Tom Hoogervorst
المساهمون: Human Genetics, Centre National de la Recherche Scientifique (CNRS), Department of Genetics [Boston], Harvard Medical School [Boston] (HMS), University College of London [London] (UCL), Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Physiopathologie mitochondriale, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Tartu, Leverhulme Centre for Human Evolutionary Studies University of Cambridge, University of Cambridge [UK] (CAM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (11), pp.1605-1611. ⟨10.1038/ejhg.2016.60⟩مصطلحات موضوعية: 0301 basic medicine, Genetics, Genetics (clinical), Vietnamese, Human Migration, Population, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, 030105 genetics & heredity, Southeast asian, Article, Burmese, 03 medical and health sciences, Asian People, parasitic diseases, Humans, education, Asia, Southeastern, Malay, Islands, education.field_of_study, Human migration, business.industry, language.human_language, 030104 developmental biology, Geography, language, Biological dispersal, Ethnology, Mainland, business
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المؤلفون: Paul Flicek, Yong Gu, David Neil Cooper, Tuuli Lappalainen, Nicholas I. Mundy, Petra C. Schwalie, Bryndis Yngvadottir, Peter D. Stenson, Michelle C Ward, Stephen H. Montgomery, Linda Vigilant, Matthew Mort, Katy Shaw, Julien Y. Dutheil, Lars Nørvang Andersen, Wesley C. Warren, Paul Heath, Emmanouil T. Dermitzakis, Edward V. Ball, Kathryn Beal, LaDeana W. Hillier, Tomas Marques-Bonet, Yali Xue, Javier Herrero, Richard K. Wilson, Emre Karakoc, Andreas Heger, Michael A. Quail, Yuan Chen, Daniel J. Turner, Kasper Munch, Anja Kolb-Kokocinski, Aylwyn Scally, Gregory E. Jordan, Pieter J. de Jong, Saba Sajjadian, Timothy D. O’Connor, Duncan T. Odom, Richard Durbin, Chris P. Ponting, Oliver A. Ryder, Andrew David Phillips, James C. Mullikin, Anthony Rogers, Javier Prado-Martinez, Stephen Meader, Jared T. Simpson, Gavin K. Laird, Chris Tyler-Smith, Shane A. McCarthy, Qasim Ayub, Can Alkan, Chris Clee, Mikkel H. Schierup, Weldon Whitener, Evan E. Eichler, Tina Graves, Asger Hobolth, Gerton Lunter, Stephen M. J. Searle, Ian Goodhead, Zemin Ning, Y. Amy Tang, Brenda J. Bradley, Dominic Schmidt, Stephen Fitzgerald, Nick Goldman, Jane Rogers, Baoli Zhu, Albert J. Vilella, Thomas Mailund
المساهمون: Scally, Aylwyn [0000-0002-0807-1167], McCarthy, Shane [0000-0002-2715-4187], Montgomery, Stephen [0000-0002-5474-5695], Mundy, Nicholas [0000-0002-5545-1517], Odom, Duncan [0000-0001-6201-5599], Apollo - University of Cambridge Repository, Wellcome Trust, European Molecular Biology Laboratory, University of Cambridge, Lundbeck Foundation, Academy of Finland, Emil Aaltonen Foundation, European Commission, European Research Council, Ministerio de Educación (España), Biotechnology and Biological Sciences Research Council (UK), Medical Research Council (UK), National Human Genome Research Institute (US), Danish Council for Independent Research, Swiss National Science Foundation, Louis Jeantet Foundation, EMBO, BIOBASE, National Science Foundation (US), Howard Hughes Medical Institute, Lappalainen, Tuuli Emilia, Dermitzakis, Emmanouil
المصدر: Nature
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature, Vol. 483, No 7388 (2012) pp. 169-175
Scally, A, Dutheil, J Y, Hillier, L W, Jordan, G E, Goodhead, I, Herrero, J, Hobolth, A, Lappalainen, T, Mailund, T, Marques-Bonet, T, McCarthy, S, Montgomery, S H, Schwalie, P C, Tang, Y A, Ward, M C, Xue, Y, Yngvadottir, B, Alkan, C, Andersen, L N, Ayub, Q, Ball, E V, Beal, K, Bradley, B J, Chen, Y, Clee, C M, Fitzgerald, S, Graves, T A, Gu, Y, Heath, P, Heger, A, Karakoc, E, Kolb-Kokocinski, A, Laird, G K, Lunter, G, Meader, S, Mort, M, Mullikin, J C, Munch, K, O'Connor, T D, Phillips, A D, Prado-Martinez, J, Rogers, A S, Sajjadian, S, Schmidt, D, Shaw, K, Simpson, J T, Stenson, P D, Turner, D J, Vigilant, L, Vilella, A J, Whitener, W, Zhu, B, Cooper, D N, de Jong, P, Dermitzakis, E T, Eichler, E E, Flicek, P, Goldman, N, Mundy, N I, Ning, Z, Odom, D T, Ponting, C P, Quail, M A, Ryder, O A, Searle, S M, Warren, W C, Wilson, R K, Schierup, M H, Rogers, J, Tyler-Smith, C & Durbin, R 2012, ' Insights into hominid evolution from the gorilla genome sequence ', Nature, vol. 483, no. 7388, pp. 169-75 . https://doi.org/10.1038/nature10842مصطلحات موضوعية: 0106 biological sciences, Transcription, Genetic, Gorilla, 01 natural sciences, Genome, ddc:576.5, Phylogeny, Pongo/genetics, Genetics, 0303 health sciences, education.field_of_study, Multidisciplinary, Genomics, Eastern gorilla, 3. Good health, Genetic Variation/genetics, Proteins/genetics, Female, Pan troglodytes, Genetic Speciation, Population, Molecular Sequence Data, Biology, 010603 evolutionary biology, Article, Evolution, Molecular, 03 medical and health sciences, Western lowland gorilla, Species Specificity, biology.animal, Animals, Humans, Gorilla gorilla/genetics, Pan troglodytes/genetics, education, Gene, 030304 developmental biology, Gorilla gorilla, Pongo, Genetic Variation, Proteins, biology.organism_classification, Macaca mulatta, Macaca mulatta/genetics, Population bottleneck, Gene Expression Regulation, Evolutionary biology, Genome/genetics, Sequence Alignment
وصف الملف: application/pdf
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المؤلفون: Klaudia Walter, Yali Xue, Jeffrey C. Barrett, Jennifer Harrow, Catherine E. Snow, Mark Gerstein, Ni Huang, Steven A. McCarroll, Jonathan K. Pritchard, Jeffrey A. Rosenfeld, Zhengdong D. Zhang, Hancheng Zheng, Menachem Fromer, Lukas Habegger, Yingrui Li, Mark A. DePristo, If H. A. Barnes, Bryndis Yngvadottir, James Morris, Alexandra Bignell, David Neil Cooper, Gerton Lunter, Ekta Khurana, Stephen B. Montgomery, Richard A. Gibbs, Donald F. Conrad, Emmanouil T. Dermitzakis, Daniel G. MacArthur, Suzannah Bumpstead, Gary Saunders, Kai Ye, Clara Amid, Marie-Marthe Suner, M. Kay, Joseph K. Pickrell, Adam Frankish, Robert E. Handsaker, Suganthi Balasubramanian, Eric Banks, Toby Hunt, Irene Gallego Romero, Cornelis A. Albers, Chris Tyler-Smith, Qasim Ayub, Denise Carvalho-Silva, Matthew E. Hurles, Min Hu, Luke Jostins, Jun Wang, Mike Jin, Xinmeng Jasmine Mu
المصدر: Science, 335, 823-8
Science, 335, 6070, pp. 823-8
Science
Science, Vol. 335, No 6070 (2012) pp. 823-8مصطلحات موضوعية: Candidate gene, Gene Expression, Biology, Genome, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Gene Frequency, Genetic variation, Humans, ddc:576.5, Disease, Allele, Selection, Genetic, Gene, Loss function, Genetics, Multidisciplinary, Genome, Human, Genetic Variation, Proteins, Phenotype, Disease/genetics, Proteins/genetics, Human genome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460cbaa54ebd06050cc4afd9908d0a81
https://doi.org/10.1126/science.1215040 -
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المؤلفون: Yali Xue, Cara Woodwark, Ni Huang, Yuan Chen, Allan Daly, Donald F. Conrad, S. Qasim Mehdi, Christopher J. Gillson, Pu Li, Bryndis Yngvadottir, Alexandra C. Nica, Chris Tyler-Smith, Qasim Ayub, Xuelong Zhang, Daniel G. MacArthur
المصدر: Genetics. 183:1065-1077
مصطلحات موضوعية: Genotype, Ubiquitin-Protein Ligases, Population, Receptors, Cell Surface, Single-nucleotide polymorphism, Investigations, Biology, Polymorphism, Single Nucleotide, Gene Frequency, Antigens, CD, Genetic variation, Genetics, Guanine Nucleotide Exchange Factors, Humans, Selection, Genetic, International HapMap Project, Poly-ADP-Ribose Binding Proteins, education, Allele frequency, Genotyping, Selection (genetic algorithm), education.field_of_study, Edar Receptor, Genome, Human, Haplotype, Alcohol Dehydrogenase, DNA Helicases, Intracellular Signaling Peptides and Proteins, Genetic Variation, Sequence Analysis, DNA, DNA Repair Enzymes, Genetics, Population, Haplotypes, Duffy Blood-Group System, Cell Adhesion Molecules
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المؤلفون: Bryndis Yngvadottir
المصدر: European Journal of Human Genetics. 15:603-606
مصطلحات موضوعية: Genetics, Disease susceptibility, Natural selection, Variation (linguistics), Human evolution, Subject (philosophy), Genomics, Disease, Biology, Genetics (clinical), Genealogy
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