Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
Skjelbred, Camilla F., Russell, Michael B., Høyer, Helle, Strand, Linda, Hilmarsen, Hilde T., Svendsen, Marit, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L.
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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Journal Article
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Journal Article
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
Hayer, Helle, Busk, Øyvind L, Esbensen, Q. Ying, Rasby, Oddveig, Hilmarsen, Hilde T, Russell, Michael B, Nyman, Tuula A, Braathen, Geir J, Nilsen, Hilde L
Published in BMC neurology (15.08.2022)
Published in BMC neurology (15.08.2022)
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Journal Article
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls
Nordang, Gry B.N., Busk, Øyvind L., Tveten, Kristian, Hanevik, Hans Ivar, Fell, Anne Kristin M., Hjelmesæth, Jøran, Holla, Øystein L., Hertel, Jens K.
Published in Molecular genetics and metabolism (01.05.2017)
Published in Molecular genetics and metabolism (01.05.2017)
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Journal Article
Identification of surface proteins in Enterococcus faecalis V583
Bøhle, Liv Anette, Riaz, Tahira, Egge-Jacobsen, Wolfgang, Skaugen, Morten, Busk, Øyvind L, Eijsink, Vincent G H, Mathiesen, Geir
Published in BMC genomics (01.03.2011)
Published in BMC genomics (01.03.2011)
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Journal Article
Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family
Braathen, G. J., Høyer, H., Busk, Ø. L., Tveten, K., Skjelbred, C. F., Russell, M. B.
Published in Acta neurologica Scandinavica (01.07.2016)
Published in Acta neurologica Scandinavica (01.07.2016)
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Journal Article
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E., Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faletra, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet‐Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G., Thorstensen, Wenche M.
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation
Gibbs, Charlotte, Thalamus, Jacob, Tveten, Kristian, Busk, Øyvind L, Hysing, Jan, Haugaa, Kristina H, Holla, Øystein L
Published in Journal of the American Heart Association (21.08.2018)
Published in Journal of the American Heart Association (21.08.2018)
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Journal Article
Relative quantification of the proteomic changes associated with the mycotoxin zearalenone in the H295R steroidogenesis model
Busk, Øyvind L., Ndossi, Doreen, Verhaegen, Steven, Connolly, Lisa, Eriksen, Gunnar, Ropstad, Erik, Sørlie, Morten
Published in Toxicon (Oxford) (01.11.2011)
Published in Toxicon (Oxford) (01.11.2011)
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Journal Article
Cytosol protein regulation in H295R steroidogenesis model induced by the zearalenone metabolites, α- and β-zearalenol
Busk, Øyvind L., Frizzell, Caroline, Verhaegen, Steven, Uhlig, Silvio, Connolly, Lisa, Ropstad, Erik, Sørlie, Morten
Published in Toxicon (Oxford) (01.01.2012)
Published in Toxicon (Oxford) (01.01.2012)
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Journal Article
Risk assessment of substances that are both genotoxic and carcinogenic Report of an International Conference organized by EFSA and WHO with support of ILSI Europe
BARLOW, S, RENWICK, A. G, KROES, R, LIEM, D, MÜLLER, D. J. G, PAGE, S, ROLLAND, V, SCHLATTER, J, TRITSCHER, A, TUETING, W, WÜRTZEN, G, KLEINER, J, BRIDGES, J. W, BUSK, L, DYBING, E, EDLER, L, EISENBRAND, G, FINK-GREMMELS, J, KNAAP, A
Published in Food and chemical toxicology (01.10.2006)
Published in Food and chemical toxicology (01.10.2006)
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Journal Article
Teachers’ and students’ motivation model as a strategy for open distance learning processes
Zaikin, O., Tadeusiewicz, R., Różewski, P., Busk Kofoed, L., Malinowska, M., Żyławski, A.
Published in Bulletin of the Polish Academy of Sciences. Technical sciences (01.12.2016)
Published in Bulletin of the Polish Academy of Sciences. Technical sciences (01.12.2016)
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Journal Article
Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”
Russell, Michael B., Skjelbred, Camilla F., Hilmarsen, Hilde T., Svendsen, Marit, Holla, Øystein L., Busk, Øyvind L., Braathen, Geir J., Høyer, Helle, Strand, Linda
Published in BioMed research international (01.01.2015)
Published in BioMed research international (01.01.2015)
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Journal Article
Probabilistic modelling of exposure doses and implications for health risk characterization: Glycoalkaloids from potatoes
Ruprich, J., Rehurkova, I., Boon, P.E., Svensson, K., Moussavian, S., Van der Voet, H., Bosgra, S., Van Klaveren, J.D., Busk, L.
Published in Food and chemical toxicology (01.12.2009)
Published in Food and chemical toxicology (01.12.2009)
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Journal Article
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L, Busk, Øyvind L, Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M, Huang, Kevin, Petree, Cassidy, Calame, Daniel G, von der Lippe, Charlotte, Alkuraya, Fowzan S, Wali, Sami, Lupski, James R, Varshney, Gaurav K, Posey, Jennifer E, Pehlivan, Davut
Published in American journal of human genetics (23.10.2024)
Published in American journal of human genetics (23.10.2024)
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Journal Article
Photolithographic Patterning of FluorAcryl for Biphilic Microwell-Based Digital Bioassays and Selection of Bacteria
Toppi, Arianna, Busk, Louise L, Hu, Hongxia, Dogan, Asli A, Jönsson, Alexander, Taboryski, Rafael J, Dufva, Martin
Published in ACS applied materials & interfaces (22.09.2021)
Published in ACS applied materials & interfaces (22.09.2021)
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Journal Article
Long-term dietary exposure to lead in young European children: comparing a pan-European approach with a national exposure assessment
Boon, P.E, Te Biesebeek, J.D, Sioen, I, Huybrechts, I, Moschandreas, J, Ruprich, J, Turrini, A, Azpiri, M, Busk, L, Christensen, T, Kersting, M, Lafay, L, Liukkonen, K.-H, Papoutsou, S, Serra-Majem, L, Traczyk, I, De Henauw, S, Van Klaveren, J.D
Published in Food additives & contaminants. Part A, Chemistry, analysis, control, exposure & risk assessment (01.01.2012)
Published in Food additives & contaminants. Part A, Chemistry, analysis, control, exposure & risk assessment (01.01.2012)
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Journal Article
Micro-droplet arrays for micro-compartmentalization using an air/water interface
Kunding, Andreas H, Busk, Louise L, Webb, Helen, Klafki, Hans W, Otto, Markus, Kutter, Jörg P, Dufva, Martin
Published in Lab on a chip (01.01.2018)
Published in Lab on a chip (01.01.2018)
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Journal Article
Children's connection to nature as fostered through residential environmental education programs: Key variables explored through surveys and field journals
Talebpour, Laleh M., Busk, Patricia L., Heimlich, Joe E., Ardoin, Nicole M.
Published in Environmental education research (02.01.2020)
Published in Environmental education research (02.01.2020)
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