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2021
Mark The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
Leinøe, Eva ; Brøns, Nanna ; Rasmussen, Andreas Ørslev ; Gabrielaite, Migle ; Zaninetti, Carlo ; Palankar, Raghavendra ; Zetterberg, Eva ^LU ; Rosthøj, Steen ; Ostrowski, Sisse Rye and Rossing, Maria (2021) In Journal of Thrombosis and Haemostasis 19(11). p.2884-2892
- Contribution to journal › Article
2020
Mark Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
Ilinca, Andreea ^LU ; Martinez-Majander, Nicolas ; Samuelsson, Sofie ^LU ; Piccinelli, Paul ^LU ; Truvé, Katarina ; Cole, John ; Kittner, Steven ; Soller, Maria ^LU ; Kristoffersson, Ulf ^LU and Tatlisumak, Turgut , et al. (2020) In Stroke 51(4). p.1056-1063
- Contribution to journal › Article
2019
Mark Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini, Camilla ; Laine, Isabelle ; Dallabona, Cristina ; Clemente, Paula ; Calvo-Garrido, Javier ; Wibom, Rolf ; Naess, Karin ; Barbaro, Michela ; Falk, Anna ^LU and Donnini, Claudia , et al. (2019) In Molecular Genetics & Genomic Medicine 7(6).
- Contribution to journal › Article
2015
Mark A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation
Clemente, N. ; Boggio, E. ; Gigliotti, C.L. ; Orilieri, E. ; Cappellano, G. ; Toth, E. ^LU ; Valletti, P.A. ; Santoro, C. ; Quinti, Isabella and Pignata, C. , et al. (2015) In Genes and Immunity 16(2). p.151-161
- Contribution to journal › Article
2014
Mark Intralocus sexual conflict over wing length in a wild migratory bird
Tarka, Maja ^LU ; Åkesson, Mikael ; Hasselquist, Dennis ^LU and Hansson, Bengt ^LU (2014) In American Naturalist 183(1). p.62-73
- Contribution to journal › Article
2013
Mark Rare allelic forms of PRDM9 associated with childhood leukemogenesis
Hussin, Julie ; Sinnett, Daniel ; Casals, Ferran ; Idaghdour, Youssef ; Bruat, Vanessa ; Saillour, Virginie ; Healy, Jasmine ; Grenier, Jean-Christophe ; de Malliard, Thibault and Busche, Stephan , et al. (2013) In Genome Research 23(3). p.30-419
- Contribution to journal › Article
Mark GNAL mutations cause adult-onset primary dystonia
Vemula, Satya R ; Puschmann, Andreas ^LU ; Xiao, Jianfeng ; Zhao, Yu-Xia ; Rudzinska, Monika ; Wszolek, Zbigniew K and LeDoux, Mark S. (2013) In Neurology 80(1).
- Contribution to journal › Published meeting abstract
Mark Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey and Thomas, Sophie , et al. (2013) In European Journal of Human Genetics 21(10). p.8-1074
- Contribution to journal › Article
2011
Mark Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene
Mkaouar-Rebai, Emna ; Ellouze, Emna ; Chamkha, Imen ^LU ; Kammoun, Fatma ; Triki, Chahnez and Fakhfakh, Faiza (2011) In Journal of Child Neurology 26(1). p.12-20
- Contribution to journal › Article
2009
Mark Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions
Hemminki, Kari ^LU ; Li, Xinjun ^LU ; Sundquist, Jan ^LU and Sundquist, Kristina ^LU (2009) In Arthritis and Rheumatism 60(3). p.8-661
- Contribution to journal › Article

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