المؤلفون: Myklebust, Line Merethe, Baumann, Markus, Støve, Svein Isungset, Foyn, Håvard, Arnesen, Thomas, Haug, Bengt Erik

المصدر: 1202501 ; Frontiers in Chemistry ; 11

وصف الملف: application/pdf

العلاقة: urn:issn:2296-2646; https://hdl.handle.net/11250/3118194Test; https://doi.org/10.3389/fchem.2023.1202501Test; cristin:2156026; Frontiers in Chemistry. 2023, 11, 1202501.

الإتاحة: https://doi.org/10.3389/fchem.2023.1202501Test
https://hdl.handle.net/11250/3118194Test

المؤلفون: Støve, Svein Isungset, Skjevik, Åge Aleksander, Teigen, Knut, Martinez, Aurora

المصدر: 1283 ; Communications Biology ; 5

وصف الملف: application/pdf

العلاقة: urn:issn:2399-3642; https://hdl.handle.net/11250/3058410Test; https://doi.org/10.1038/s42003-022-04121-1Test; cristin:2087032; Communications Biology. 2022, 5, 1283.

الإتاحة: https://doi.org/10.1038/s42003-022-04121-1Test
https://hdl.handle.net/11250/3058410Test

المؤلفون: Mc Tiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrissen, Myklebust, Line Merethe, Houge, Gunnar, Arnesen, Thomas

المصدر: BMC Medical Genetics

وصف الملف: application/pdf

العلاقة: Helse Vest RHF: 912176; Norges forskningsråd: 249843; urn:issn:1471-2350; https://hdl.handle.net/1956/23602Test; https://doi.org/10.1186/s12881-018-0559-zTest; cristin:1588482

الإتاحة: https://doi.org/10.1186/s12881-018-0559-zTest
https://hdl.handle.net/1956/23602Test

المؤلفون: Ochaya, Stephen, Franzén, Oscar, Buhwa, Doreen Asiimwe, Foyn, Håvard, Butler, Claire E., Støve, Svein Isungset, Tyler, Kevin M., Arnesen, Thomas, Matovu, Enock, Åslund, Lena, Andersson, Bjørn

المصدر: Journal of Parasitology Research

وصف الملف: application/pdf

العلاقة: Helse Vest RHF: 912176; Norges forskningsråd: 249843; urn:issn:2090-0031; urn:issn:2090-0023; http://hdl.handle.net/1956/22501Test; https://doi.org/10.1155/2019/6594212Test; cristin:1714340

الإتاحة: https://doi.org/10.1155/2019/6594212Test
http://hdl.handle.net/1956/22501Test

المؤلفون: Eichner, Christiane, Støve, Svein Isungset, Martinez, Aurora, Nilsen, Frank, Dondrup, Michael

المصدر: Scientific Reports

مصطلحات موضوعية: Iron, Parasite physiology, RNAi

وصف الملف: application/pdf

العلاقة: urn:issn:2045-2322; http://hdl.handle.net/1956/22003Test; https://doi.org/10.1038/s41598-019-40590-xTest; cristin:1748029

الإتاحة: https://doi.org/10.1038/s41598-019-40590-xTest
http://hdl.handle.net/1956/22003Test

المؤلفون: Heggland, Erna Irene, Eichner, Christiane, Støve, Svein Isungset, Martinez, Aurora, Nilsen, Frank, Dondrup, Michael

المساهمون: Norges Forskningsråd

المصدر: Scientific Reports ; volume 9, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-019-40590-xTest
https://www.nature.com/articles/s41598-019-40590-x.pdfTest
https://www.nature.com/articles/s41598-019-40590-xTest

المؤلفون: Støve, Svein Isungset, Blenski, Marina, Stray-Pedersen, Asbjørg, Wierenga, Klaas J., Jhangiani, Shalini N., Akdemir, Zeynep Coban, Crawford, David, McTiernan, Nina, Myklebust, Line M., Purcarin, Gabriela, McNall-Knapp, Rene, Wadley, Alexandrea, Belmont, John W., Kim, Jeffrey J., Lupski, James R, Arnesen, Thomas

المصدر: European Journal of Human Genetics ; volume 26, issue 9, page 1294-1305 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-018-0136-0Test
http://www.nature.com/articles/s41431-018-0136-0.pdfTest
http://www.nature.com/articles/s41431-018-0136-0Test

المؤلفون: McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M., Houge, Gunnar, Arnesen, Thomas

المساهمون: Norges Forskningsråd, Helse Vest Regionalt Helseføretak, Bergens Forskningsstiftelse, Kreftforeningen

المصدر: BMC Medical Genetics ; volume 19, issue 1 ; ISSN 1471-2350

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12881-018-0559-zTest

المؤلفون: Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, Ahmew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange-Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean-Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin-Robinet, Christel, Zweier, Christiane

المساهمون: Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de pédiatrie (CHU de Dijon), Department of Molecular Biology, University of Bergen (UiB), Dpt of Surgery Bergen, Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB), Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Laboratoire de Génétique Moléculaire CHRU Strasbourg, CHRU Strasbourg, Division of Genetics & Metabolism, Children's National Medical Center, Dpt of Genetics Utrecht, University Medical Center Utrecht, Massachusetts General Hospital Boston, Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Médicale CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Kaiser Permanente, Erasmus University Medical Center Rotterdam (Erasmus MC), Dpts of Genetics and Genomic Sciences and Pediatrics New York, Icahn School of Medicine at Mount Sinai New York (MSSM), Université de Bourgogne (UB), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire de génétique moléculaire (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Contract grant sponsors: Dijon University Hospital, Regional Council of Burgundy, KEY WORDS: NAA10, X-linked, intellectual disability, N-terminal acetylation, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-01314294; https://hal.sorbonne-universite.fr/hal-01314294Test; https://hal.sorbonne-universite.fr/hal-01314294/documentTest; https://hal.sorbonne-universite.fr/hal-01314294/file/humu23001.pdfTest

الإتاحة: https://doi.org/10.1002/humu.23001Test
https://hal.sorbonne-universite.fr/hal-01314294Test
https://hal.sorbonne-universite.fr/hal-01314294/documentTest
https://hal.sorbonne-universite.fr/hal-01314294/file/humu23001.pdfTest

المؤلفون: Myklebust, Line Merethe, Van Damme, Petra, Støve, Svein Isungset, Dörfel, Max J, Abboud, Angèle, Kalvik, Thomas Vikestad, Grauffel, Cédric, Jonckheere, Veronique, Wu, Yiyang, Swensen, Jeffrey, Kaasa, Hanna, Liszczak, Glen, Marmorstein, Ronen, Reuter, Nathalie, Lyon, Gholson J, Gevaert, Kris, Arnesen, Thomas

وصف الملف: application/pdf

العلاقة: Bergens forskningsstiftelse: xx; Notur/NorStore: nn4700k; urn:issn:1460-2083; https://hdl.handle.net/1956/11908Test; https://doi.org/10.1093/hmg/ddu611Test; cristin:1312345

الإتاحة: https://doi.org/10.1093/hmg/ddu611Test
https://hdl.handle.net/1956/11908Test