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1دورية أكاديميةDNA methylation signature classification of rare disorders using publicly available methylation data
المؤلفون: Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S., Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep
المصدر: Hildonen , M , Ferilli , M , Hjortshøj , T D , Dunø , M , Risom , L , Bak , M , Ek , J , Møller , R S , Ciolfi , A , Tartaglia , M & Tümer , Z 2023 , ' DNA methylation signature classification of rare disorders using publicly available methylation data ' , Clinical Genetics , vol. 103 , no. 6 , pp. 688-692 . https://doi.org/10.1111/cge.14304Test
مصطلحات موضوعية: KMT2D, Kabuki syndrome, Mendelian disorders, VUS classification, epigenetics, episignature, rare disorders, Abnormalities, Multiple/genetics, DNA Methylation, Humans, Vestibular Diseases/genetics, Hematologic Diseases/genetics
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cddTest
الإتاحة: https://doi.org/10.1111/cge.14304Test
https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cddTest
https://findresearcher.sdu.dk/ws/files/220564653/Clinical_Genetics_2023_Hildonen_DNA_methylation_signature_classification_of_rare_disorders_using_publicly_available.pdfTest -
2دورية أكاديمية
المؤلفون: Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry
مصطلحات موضوعية: LETM1, Wolf-Hirschhorn Syndrome, Genetics, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Doenças Genéticas
العلاقة: https://www.sciencedirect.com/science/article/pii/S0002929722003111?via%3DihubTest; Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi:10.1016/j.ajhg.2022.07.007; http://hdl.handle.net/10400.18/8559Test
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3دورية أكاديمية
المؤلفون: Kaiyrzhanov, Rauan, Mohammed, Sami E M, Maroofian, Reza, Husain, Ralf A, Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G, Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A, Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A, Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B, Carrozzo, Rosalba, Haack, Tobias B, Taylor, Robert W, Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry
المساهمون: R. Kaiyrzhanov, S.E.M. Mohammed, R. Maroofian, R.A. Husain, A. Catania, A. Torraco, A. Alahmad, M. Dutra-Clarke, S. Grønborg, A. Sudarsanam, J. Vogt, F. Arrigoni, J. Baptista, S. Haider, R.G. Feichtinger, P. Bernardi, A. Zulian, M. Gusic, S. Efthymiou, R. Bai, F. Bibi, A. Horga, J.A. Martinez-Agosto, A. Lam, A. Manole, D. Rodriguez, R. Durigon, A. Pyle, B. Albash, C. Dionisi-Vici, D. Murphy, D. Martinelli, E. Bugiardini, K. Alli, C. Lamperti, S. Reipert, L. Risom, L. Laugwitz, M. Di Nottia, R. Mcfarland, L. Vilarinho, M. Hanna, H. Prokisch, J.A. Mayr, E.S. Bertini, D. Ghezzi, E. Østergaard, S.B. Wortmann, R. Carrozzo, T.B. Haack, R.W. Taylor, A. Spinazzola, K. Nowikovsky, H. Houlden
مصطلحات موضوعية: LETM1, Wolf-Hirschhorn syndrome, genetic, mitochondria, mitochondrial disease, neurodegeneration, neurology, oxidative phosphorylation, potassium transport, volume homeostasi, Homeostasi, Human, Membrane Protein, Mitochondrial Protein, Nervous System, Saccharomyces cerevisiae, Calcium-Binding Protein, Mitochondrial Diseases, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; volume:109; issue:9; firstpage:1692; lastpage:1712; numberofpages:21; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/939766Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137109005
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4دورية أكاديمية
المؤلفون: Sølyst, Sofus, Oksjoki, Riina, Farholt, Stense, Nielsen, Dorte Guldbrand, Christensen, Alex H., Fagerberg, Christina R., Risom, Lotte, Gregersen, Pernille Axél, Christensen, Maria Bejerholm, Rasmussen, Torsten Bloch, Diness, Birgitte Rode
المصدر: Sølyst , S , Oksjoki , R , Farholt , S , Nielsen , D G , Christensen , A H , Fagerberg , C R , Risom , L , Gregersen , P A , Christensen , M B , Rasmussen , T B & Diness , B R 2022 , ' Carriers of COL3A1 pathogenic variants in Denmark : Interfamilial variability in severity and outcome of elective surgical procedures ' , Clinical Genetics , vol. 102 , no. 3 , pp. 191-200 . https://doi.org/10.1111/cge.14176Test
مصطلحات موضوعية: COL3A1, genotype–phenotype, surgical complications, vascular EDS, vascular Ehlers–Danlos syndrome, vEDS, Collagen Type III/genetics, Denmark/epidemiology, Humans, Ehlers-Danlos Syndrome/genetics, Retrospective Studies, Elective Surgical Procedures
وصف الملف: application/pdf
العلاقة: https://pure.au.dk/portal/da/publications/carriers-of-col3a1-pathogenic-variants-in-denmarkTest(b172aa78-a82a-467c-ad0d-486a3038d6e3).html
الإتاحة: https://doi.org/10.1111/cge.14176Test
https://pure.au.dk/portal/da/publications/carriers-of-col3a1-pathogenic-variants-in-denmarkTest(b172aa78-a82a-467c-ad0d-486a3038d6e3).html
https://pure.au.dk/ws/files/353144311/Clinical_Genetics_-_2022_-_S_lyst_-_Carriers_of_COL3A1_pathogenic_variants_in_Denmark_Interfamilial_variability_in.pdfTest
http://www.scopus.com/inward/record.url?scp=85133396947&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Rosengren, Thomas, Nanhoe, Santoesha, de Almeida, Luis Gustavo Dufner, Schönewolf-Greulich, Bitten, Larsen, Lasse Jonsgaard, Hey, Caroline Amalie Brunbjerg, Dunø, Morten, Ek, Jakob, Risom, Lotte, Nellist, Mark, Møller, Lisbeth Birk
المساهمون: Tuberous Sclerosis Alliance, Det Frie Forskningsråd, Aase og Ejnar Danielsens Fond
المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-020-66588-4Test
https://www.nature.com/articles/s41598-020-66588-4.pdfTest
https://www.nature.com/articles/s41598-020-66588-4Test -
6دورية أكاديمية
المصدر: Ugeskrift for Laeger. 181(7A):701
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7دورية أكاديمية
المؤلفون: Lildballe, Dorte L., Frederiksen, Anja Lisbeth, Schönewolf-Greulich, Bitten, Brasch-Andersen, Charlotte, Lautrup, Charlotte Kvist, Karstensen, Helena Gásdal, Pedersen, Inge Søkilde, Sunde, Lone, Risom, Lotte, Rasmussen, Maria, Bertelsen, Mette, Andersen, Mette Klarskov, Rendtorff, Nanna Dahl, Gregersen, Pernille Axél, Tørring, Pernille M., Hammer-Hansen, Sophia, Boonen, Susanne E., Lindquist, Suzanne Granhøj, Hammer, Trine Bjørg, Diness, Birgitte R.
المصدر: Lildballe , D L , Frederiksen , A L , Schönewolf-Greulich , B , Brasch-Andersen , C , Lautrup , C K , Karstensen , H G , Pedersen , I S , Sunde , L , Risom , L , Rasmussen , M , Bertelsen , M , Andersen , M K , Rendtorff , N D , Gregersen , P A , Tørring , P M , Hammer-Hansen , S , Boonen , S E , Lindquist , S G , Hammer , T B & Diness , B R 2023 , ' National clinical Genetic Networks ....
مصطلحات موضوعية: Communication, Decision making, Genetic counseling, Multidisciplinary, Professional development, Variant classification, Humans, Gene Regulatory Networks, Animals, Health Personnel, Denmark, Viverridae
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104872Test
https://pure.au.dk/portal/en/publications/bdb847ee-2544-4a31-bae6-8ecce4c31ab8Test
http://www.scopus.com/inward/record.url?scp=85177768829&partnerID=8YFLogxKTest -
8دورية أكاديمية
المؤلفون: Fritzen, Andreas Mæchel, Thøgersen, Frank B, Thybo, Kasper, Vissing, Christoffer Rasmus, Krag, Thomas O, Ruiz-Ruiz, Cristina, Risom, Lotte, Wibrand, Flemming, Høeg, Louise Dalgas, Kiens, Bente, Duno, Morten, Vissing, John, Jeppesen, Tina Dysgaard
المصدر: Fritzen , A M , Thøgersen , F B , Thybo , K , Vissing , C R , Krag , T O , Ruiz-Ruiz , C , Risom , L , Wibrand , F , Høeg , L D , Kiens , B , Duno , M , Vissing , J & Jeppesen , T D 2019 , ' Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle ' , Cells , vol. 8 , no. 3 , 237 . https://doi.org/10.3390/cells8030237Test
مصطلحات موضوعية: /dk/atira/pure/core/keywords/TheFacultyOfScience, Faculty of Science, mtDNA, Mitochondria, Skeletal muscle, Exercise training, Mitochondrial biogenesis
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3390/cells8030237Test
https://curis.ku.dk/portal/da/publications/adaptations-in-mitochondrial-enzymatic-activity-occurs-independent-of-genomic-dosage-in-response-to-aerobic-exercise-training-and-deconditioning-in-human-skeletal-muscleTest(de81e776-af2a-4af4-aef0-542628c3ee80).html
https://curis.ku.dk/ws/files/215031766/Fritzen_et_al_Cells_2019_Vol_8_3_e237.pdfTest -
9دورية أكاديمية
المؤلفون: Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, van de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, van Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, van der Linde, Denise, Roos-Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El-Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst-Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Desir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Van Laer, Lut, Loeys, Bart
المصدر: 1059-7794 ; Human mutation
مصطلحات موضوعية: Human medicine
وصف الملف: pdf
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000433600000002
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10دورية أكاديمية
المؤلفون: Barington, Maria, Risom, Lotte, Ek, Jakob, Uldall, Peter, Ostergaard, Elsebet
المصدر: Barington , M , Risom , L , Ek , J , Uldall , P & Ostergaard , E 2018 , ' A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder ' , European Journal of Human Genetics , vol. 26 , no. 9 , pp. 1388-1391 . https://doi.org/10.1038/s41431-018-0184-5Test
مصطلحات موضوعية: Adolescent, Autism Spectrum Disorder/genetics, Child, Female, Homeodomain Proteins/genetics, Humans, Intellectual Disability/genetics, Male, Mutation, Missense, Seizures/genetics, Syndrome
الإتاحة: https://doi.org/10.1038/s41431-018-0184-5Test
https://curis.ku.dk/portal/da/publications/a-recurrent-de-novo-cux2-missense-variant-associated-with-intellectual-disability-seizures-and-autism-spectrum-disorderTest(36e8a002-929f-4519-a44d-994c3f49b6c5).html
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117349/pdf/41431_2018_Article_184.pdfTest
النص الكامل