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1دورية أكاديمية
المؤلفون: Sarah J. Potter, Li Zhang, Michael Kotliar, Yuehong Wu, Caitlin Schafer, Kurtis Stefan, Leandros Boukas, Dima Qu’d, Olaf Bodamer, Brittany N. Simpson, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson
المصدر: Frontiers in Immunology, Vol 15 (2024)
مصطلحات موضوعية: Kabuki syndrome (KS), KS1-associated immune deficiency (KSAID), thymocyte, recent thymic emigrant (RTE), Itgal, Itgb7, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B. Agrawal, Katherine Agre, Carolyn D. Applegate, Alan H. Beggs, Hans T. Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R. Finnila, Ralitza Gavrilova, Casie A. Genetti, Susan M. Hiatt, Friedhelm Hildebrandt, Monica H. Wojcik, Tjitske Kleefstra, Caroline M. Kolvenbach, Bruce R. Korf, Paul Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R. Blackburn, Margot R. F. Reijnders, Heiko Reutter, Ina Schanze, Joseph T. Shieh, Cathy A. Stevens, Zaheer Valivullah, Marie-José van den Boogaard, Eric W. Klee, Philippe M. Campeau
المصدر: Genes, Vol 15, Iss 8, p 1033 (2024)
مصطلحات موضوعية: neurodevelopmental disorders, intellectual disabilities, histone demethylation, KDM5, epigenetics, genetic syndromes, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Allison J. Kalinousky, Teresa R. Luperchio, Katrina M. Schrode, Jacqueline R. Harris, Li Zhang, Valerie B. DeLeon, Jill A. Fahrner, Amanda M. Lauer, Hans T. Bjornsson
المصدر: Genes, Vol 15, Iss 1, p 48 (2023)
مصطلحات موضوعية: Kabuki syndrome, congenital hearing loss, genetic syndrome, hair cells, MLL2, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5دورية أكاديمية
المؤلفون: Shijie C. Zheng, Genevieve Stein-O’Brien, Jonathan J. Augustin, Jared Slosberg, Giovanni A. Carosso, Briana Winer, Gloria Shin, Hans T. Bjornsson, Loyal A. Goff, Kasper D. Hansen
المصدر: Genome Biology, Vol 23, Iss 1, Pp 1-27 (2022)
مصطلحات موضوعية: Cell cycle, Single-cell RNA-sequencing, Transfer learning, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1474-760X
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6دورية أكاديمية
المؤلفون: Teresa Romeo Luperchio, Leandros Boukas, Li Zhang, Genay Pilarowski, Jenny Jiang, Allison Kalinousky, Kasper D Hansen, Hans T Bjornsson
المصدر: eLife, Vol 10 (2021)
مصطلحات موضوعية: histone machinery, epigenetics, computational methods, IgA deficiency, Mendelian, chromatin, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7
المصدر: Journal of Inherited Metabolic Disease. 45:710-718
مصطلحات موضوعية: Adult, Male, Young Adult, Adolescent, Genetics, Humans, Hyperammonemia, Urea, Age of Onset, Alleles, Ornithine Carbamoyltransferase, Genetics (clinical), Ornithine Carbamoyltransferase Deficiency Disease
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8
المؤلفون: Jacqueline R. Harris, Christine W. Gao, Jacquelyn F. Britton, Carolyn D. Applegate, Hans T. Bjornsson, Jill A. Fahrner
المصدر: Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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9
المصدر: Advances in Therapy
مصطلحات موضوعية: Adolescent, media_common.quotation_subject, Population, Disease, Adolescents, Quality of life (healthcare), Perception, medicine, Humans, Pharmacology (medical), Abnormalities, Multiple, education, Survey, media_common, Original Research, Humanistic burden, education.field_of_study, Kabuki syndrome, business.industry, Perspective (graphical), General Medicine, medicine.disease, Hematologic Diseases, Patient research, United States, Caregivers, Vestibular Diseases, Face, Patient burden, Quality of Life, business, Psychosocial, Qualitative research, Clinical psychology
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10
المؤلفون: Sarah J Potter, Li Zhang, Michael Kotliar, Yuehong Wu, Caitlin Schafer, Kurtis Stefan, Leandros Boukas, Dima Qu’d, Olaf Bodamer, Brittany N Simpson, Artem Barski, Andrew W Lindsley, Hans T Bjornsson
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::29c23032151b736380beb719e9be9406
https://doi.org/10.1101/2022.10.04.510662