المؤلفون: Lori Broderick, Shawn Yost, Dong Li, Matthew D. McGeough, Laela M. Booshehri, Marisela Guaderrama, Susannah D. Brydges, Karolina Kucharova, Niraj C. Patel, Margaret Harr, Hakon Hakonarson, Elaine Zackai, Ian G. Cowell, Caroline A. Austin, Boris Hügle, Corinna Gebauer, Jianguo Zhang, Xun Xu, Jian Wang, Ben A. Croker, Kelly A. Frazer, Christopher D. Putnam, Hal M. Hoffman

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f68d775e267842bf9a3e97c19180cf33

المؤلفون: Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/3-108/v2; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/4429359a8e4b48758f162d30cbdaee3f

المؤلفون: Shazia Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz, Anthony Renwick, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/3-37/v1; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/00fd17b000e54d5989a7f945d71407ce

المؤلفون: Márton Münz, Shazia Mahamdallie, Shawn Yost, Andrew Rimmer, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Elise Ruark, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/3-36/v1; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/8141b6cd896940048368273bd71160b4

المؤلفون: Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 2 (2017)

مصطلحات موضوعية: Genomics, Medical Genetics, Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/2-35/v1; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/8dbb267d0f814abb8d03cfc6f3b5b2af

المؤلفون: Marijke P. Baltissen, Sandra Hanks, Eelco C. Tromer, Shawn Yost, Bas de Wolf, Geert J.P.L. Kops, Michiel Vermeulen, Philippe Piloquet, Bertrand Isidor, Ali Oghabian, Jolien J. E. van Hooff, Berend Snel, Esther C.H. Uijttewaal, Nazneen Rahman, Jens Verbeeren, Laura E van Rooijen, Lisa van Voorthuijsen, Maureen V. Akinyi, Mikko J. Frilander

المساهمون: Sub Bioinformatics, Theoretical Biology and Bioinformatics, CAMM - Research Program for Clinical and Molecular Metabolism, Institute of Biotechnology, Biosciences, Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: EMBO Journal
EMBO Journal, 40(14), 1. Nature Publishing Group
EMBO Journal, 40(14). Nature Publishing Group
The EMBO Journal

مصطلحات موضوعية: Aneuploidy, PROTEIN, Biochemistry, Chromosomal Instability/genetics, 0302 clinical medicine, Minor spliceosome, Chromosome instability, U12-TYPE INTRONS, CEP57, Exome sequencing, Genetics, 0303 health sciences, Tumor, General Neuroscience, Proteomics and Chromatin Biology, Cell Cycle, RNU4ATAC, HUMAN INTERACTOME, 1184 Genetics, developmental biology, physiology, Articles, RNA Biology, 3. Good health, minor spliceosome, RNA splicing, CHECKPOINT, Spliceosome, Mutation/genetics, Neuroscience(all), Biology, Chromosomes, Article, General Biochemistry, Genetics and Molecular Biology, Cell Line, Introns/genetics, 03 medical and health sciences, Chromosomal Instability, Cell Line, Tumor, Immunology and Microbiology(all), medicine, Humans, CCDC84, Cell Cycle/genetics, Amino Acid Sequence, aneuploidy, Spliceosomes/genetics, Gene, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, IDENTIFICATION, CENATAC, Biochemistry, Genetics and Molecular Biology(all), MOSAIC VARIEGATED ANEUPLOIDY, Chromosomes/genetics, Intron, medicine.disease, U11 SNRNP, GENE, Introns, Mutation, Spliceosomes, Genetics, Gene Therapy & Genetic Disease, 030217 neurology & neurosurgery, Genetics and Molecular Biology(all), HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d7b40146969ea51a965e5d52d5c292
https://dspace.library.uu.nl/handle/1874/414082

المؤلفون: Lei Bao, Karen Messer, Richard Schwab, Olivier Harismendy, Minya Pu, Brian Crain, Shawn Yost, Kelly A Frazer, Brinda Rana, Farnaz Hasteh, Anne Wallace, Barbara A Parker

المصدر: PLoS ONE, Vol 10, Iss 11, p e0142487 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4640562?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/30ee3229ddb346b39baed06add9a1835

المؤلفون: Anna Zachariou, Esther Uijttewaal, Shawn Yost, Richarda M. de Voer, Susan Picton, Bas de Wolf, Anna Elliott, Chiara Marcozzi, Sarah F. Smithson, Gunnar Houge, Elise Ruark, Sandra Hanks, Emma Ramsay, Harriet Wylie, Jonathon Pines, Sheila Seal, Nazneen Rahman, Matthew Clarke, Banafsheh Etemad, Geert J. P. L. Kops, Audrey Smith

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: Nature Genetics, 49, 7, pp. 1148-1151
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group

مصطلحات موضوعية: Myeloid, 0301 basic medicine, Microcephaly, Developmental Disabilities, RNA Stability, Aneuploidy, Cell Cycle Proteins, medicine.disease_cause, Neoplasms, Multiple Primary, Multiple Primary, Neoplasms, Chromosome Segregation, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Child, Exome sequencing, Ovarian Neoplasms, Genetics, Mutation, Leukemia, Mosaicism, Nuclear Proteins, DNA, Neoplasm, Protein-Serine-Threonine Kinases, Kidney Neoplasms, Leukemia, Myeloid, Acute, Child, Preschool, Female, Microtubule-Associated Proteins, Acute, Protein Serine-Threonine Kinases, Biology, BUB1B, Wilms Tumor, Article, Sertoli-Leydig Cell Tumor, 03 medical and health sciences, Seizures, Journal Article, medicine, Humans, Genetic Predisposition to Disease, Preschool, Chromosome, Wilms' tumor, DNA, medicine.disease, 030104 developmental biology, Cancer research, Neoplasm, ATPases Associated with Diverse Cellular Activities, M Phase Cell Cycle Checkpoints, Carrier Proteins, Carcinogenesis

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6242b84b6ea9ef95284c06180fd1173b
https://doi.org/10.1038/ng.3883

المؤلفون: Susannah Brydges, Kelly A. Frazer, Boris Hügle, Xun Xu, Shawn Yost, Niraj C. Patel, Hakon Hakonarson, Dong Li, Ben A. Croker, Lori Broderick, Matthew D. McGeough, Corinna Gebauer, Caroline A. Austin, Jian Wang, Marisela Guaderrama, Jian-Guo Zhang, Margaret H. Harr, Laela M. Booshehri, Ian G. Cowell, Hal M. Hoffman, Christopher D. Putnam, Karolina Kucharova, Elaine H. Zackai

المصدر: Nature Communications
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Cellular differentiation, General Physics and Astronomy, 02 engineering and technology, medicine.disease_cause, Mice, 2.1 Biological and endogenous factors, Aetiology, lcsh:Science, Immunodeficiency, Mice, Knockout, Mutation, B-Lymphocytes, Multidisciplinary, biology, Medical genetics, Cell Differentiation, 021001 nanoscience & nanotechnology, 3. Good health, Cell biology, medicine.anatomical_structure, Essential gene, Female, 0210 nano-technology, Science, Knockout, 1.1 Normal biological development and functioning, Primary Immunodeficiency Diseases, Saccharomyces cerevisiae, Type II, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Rare Diseases, Immunological deficiency syndromes, Underpinning research, medicine, Genetics, Animals, Humans, B cell, Immunological disorders, B cells, Topoisomerase, DNA replication, General Chemistry, biology.organism_classification, medicine.disease, 030104 developmental biology, DNA Topoisomerases, Type II, biology.protein, lcsh:Q, DNA Topoisomerases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73899ebba2edf90c3ba92612ef84c19a
http://europepmc.org/articles/PMC6692411

المؤلفون: Shazia, Mahamdallie, Shawn, Yost, Emma, Poyastro-Pearson, Esty, Holt, Anna, Zachariou, Sheila, Seal, Anna, Elliott, Matthew, Clarke, Margaret, Warren-Perry, Sandra, Hanks, John, Anderson, Simon, Bomken, Trevor, Cole, Roula, Farah, Rhoikos, Furtwaengler, Adam, Glaser, Richard, Grundy, James, Hayden, Steve, Lowis, Frédéric, Millot, James, Nicholson, Milind, Ronghe, Jane, Skeen, Denise, Williams, Daniel, Yeomanson, Elise, Ruark, Nazneen, Rahman

مصطلحات موضوعية: Adult, Genetic Markers, Male, Jumonji Domain-Containing Histone Demethylases, F-Box-WD Repeat-Containing Protein 7, Genes, Wilms Tumor, Adolescent, Middle Aged, Tripartite Motif-Containing Protein 28, Prognosis, Wilms Tumor, United Kingdom, Article, Kidney Neoplasms, Young Adult, Child, Preschool, Mutation, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Exome, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cdb18334ee19befe259ca75a00843b82
https://europepmc.org/articles/PMC6472290/