Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex von 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

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Air pollution, oxidative damage to DNA, and carcinogenesis von Møller, Peter, Folkmann, Janne Kjærsgaard, Forchhammer, Lykke, Bräuner, Elvira Vaclavik, Danielsen, Pernille Høgh, Risom, Lotte, Loft, Steffen

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Putative new childhood leukemia cancer predisposition syndrome caused by germline bi‐allelic missense mutations in DDX41 von Diness, Birgitte R., Risom, Lotte, Frandsen, Thomas L., Hansen, Bente, Andersen, Mette K., Schmiegelow, Kjeld, Wadt, Karin A. W.

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Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption von Risom, Lotte, Christoffersen, Line, Daugaard-Jensen, Jette, Hove, Hanne Dahlgaard, Andersen, Henriette Skovgaard, Andresen, Brage Storstein, Kreiborg, Sven, Duno, Morten

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Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle von Fritzen, Andreas M, Thøgersen, Frank B, Thybo, Kasper, Vissing, Christoffer R, Krag, Thomas O, Ruiz-Ruiz, Cristina, Risom, Lotte, Wibrand, Flemming, Høeg, Louise D, Kiens, Bente, Duno, Morten, Vissing, John, Jeppesen, Tina D

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Inflammatory and genotoxic effects of diesel particles in vitro and in vivo von Dybdahl, Marianne, Risom, Lotte, Bornholdt, Jette, Autrup, Herman, Loft, Steffen, Wallin, Håkan

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Oxidatively damaged DNA and inflammation in the liver of dyslipidemic ApoE−/− mice exposed to diesel exhaust particles von Folkmann, Janne Kjærsgaard, Risom, Lotte, Hansen, Christian Stevns, Loft, Steffen, Møller, Peter

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Cytokine expression in mice exposed to diesel exhaust particles by inhalation. Role of tumor necrosis factor von Saber, Anne T, Jacobsen, Nicklas R, Bornholdt, Jette, Kjaer, Sanna L, Dybdahl, Marianne, Risom, Lotte, Loft, Steffen, Vogel, Ulla, Wallin, Håkan

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A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder von Barington, Maria, Risom, Lotte, Ek, Jakob, Uldall, Peter, Ostergaard, Elsebet

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Hypoxia and oxidation levels of DNA and lipids in humans and animal experimental models von Møller, Peter, Risom, Lotte, Lundby, Carsten, Mikkelsen, Lone, Loft, Steffen

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Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency von Rasmussen, Jan, Lund, Allan M, Risom, Lotte, Wibrand, Flemming, Gislason, Hannes, Nielsen, Olav W, Køber, Lars, Duno, Morten

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Oxidatively Damaged DNA in Rats Exposed by Oral Gavage to C₆₀ Fullerenes and Single-Walled Carbon Nanotubes von Folkmann, Janne K., Risom, Lotte, Jacobsen, Nicklas R., Wallin, Håkan, Loft, Steffen, Møller, Peter

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Oxidatively Damaged DNA in Rats Exposed by Oral Gavage to C 60 Fullerenes and Single-Walled Carbon Nanotubes von Folkmann, Janne K., Risom, Lotte, Jacobsen, Nicklas R., Wallin, Håkan, Loft, Steffen, Møller, Peter

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Acute hypoxia and reoxygenation-induced DNA oxidation in human mononuclear blood cells von Risom, L, Lundby, C, Thomsen, J J, Mikkelsen, L, Loft, S, Friis, G, Moller, P

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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 von Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, 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, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Laer, Lut, Loeys, Bart

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DNA methylation signature classification of rare disorders using publicly available methylation data von Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S., Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep

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Mutagenicity of 2-amino-3-methylimidazo[4,5-f]quinoline in colon and liver of Big Blue rats: role of DNA adducts, strand breaks, DNA repair and oxidative stress von Møller, Peter, Wallin, Håkan, Vogel, Ulla, Autrup, Herman, Risom, Lotte, Hald, Mikkel T., Daneshvar, Bahram, Dragsted, Lars O., Poulsen, Henrik E., Loft, Steffen

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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures von 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

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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course von Grønborg, Sabine, Risom, Lotte, Ek, Jakob, Larsen, Karen Bonde, Scheie, David, Petkov, Yanko, Larsen, Vibeke André, Dunø, Morten, Joensen, Fróði, Østergaard, Elsebet

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement von 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

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