Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor devel...

بواسطة Jespersgaard, Cathrine, Damgaard, Ida N., Cornelius, Nanna, Bache, Iben, Knabe, Niels, Miranda, Maria J., Tümer, Zeynep
الحاوية / القاعدة Mol Cytogenet (2016)

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

بواسطة Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas
الحاوية / القاعدة Sci Rep (2019)

Genetic Variability in Beta-Defensins Is Not Associated with Susceptibility to Staphylococcus aureus Bacteremia

بواسطة Fode, Peder, Larsen, Anders Rhod, Feenstra, Bjarke, Jespersgaard, Cathrine, Skov, Robert Leo, Stegger, Marc, Fowler, Vance G., Andersen, Paal Skytt
منشور في 2012

Hereditary Hemochromatosis (HFE) genotypes in heart failure: Relation to etiology and prognosis

بواسطة Møller, Daniel V, Pecini, Redi, Gustafsson, Finn, Hassager, Christian, Hedley, Paula, Jespersgaard, Cathrine, Torp-Pedersen, Christian, Christiansen, Michael, Køber, Lars V
منشور في 2010

Long QT syndrome in South Africa: the results of comprehensive genetic screening

بواسطة Hedley, Paula L, Durrheim, Glenda A, Hendricks, Firzana, Corfield, Valerie A, Jespersgaard, Cathrine, Støvring, Birgitte, Pham, Tam T, Christiansen, Michael, Goosen, Althea, Brink, Paul A
منشور في 2013

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

بواسطة Jespersgaard, Cathrine, Bertelsen, Mette, Arif, Farah, Gellert-Kristensen, Helene Gry, Fang, Mingyan, Jensen, Hanne, Rosenberg, Thomas, Tümer, Zeynep, Møller, Lisbeth Birk, Brøndum-Nielsen, Karen, Grønskov, Karen
الحاوية / القاعدة Genes (Basel) (2020)

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods

بواسطة Fode, Peder, Jespersgaard, Cathrine, Hardwick, Robert J., Bogle, Helen, Theisen, Michael, Dodoo, Daniel, Lenicek, Martin, Vitek, Libor, Vieira, Ana, Freitas, Joao, Andersen, Paal Skytt, Hollox, Edward J.
منشور في 2011

Genome Wide Peripheral Blood Leukocyte DNA Methylation Microarrays Identified a Single Association with Inflammatory Bowel Diseases

بواسطة Harris, R. Alan., Nagy-Szakal, Dorottya, Pedersen, Natalia, Opekun, Antone, Bronsky, Jiri, Munkholm, Pia, Jespersgaard, Cathrine, Andersen, Paal Skytt, Melegh, Bela, Ferry, George, Jess, Tine, Kellermayer, Richard
منشور في 2012

MT-CYB mutations in hypertrophic cardiomyopathy

بواسطة Hagen, Christian M, Aidt, Frederik H, Havndrup, Ole, Hedley, Paula L, Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K, Moolman-Smook, Johanna C, Møller, Daniel V, Bundgaard, Henning, Christiansen, Michael
منشور في 2013

MT-CYB mutations in hypertrophic cardiomyopathy

بواسطة Hagen, Christian M, Aidt, Frederik H, Havndrup, Ole, Hedley, Paula L, Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K, Moolman-Smook, Johanna C, Møller, Daniel V, Bundgaard, Henning, Christiansen, Michael
منشور في 2013

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

بواسطة Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen
الحاوية / القاعدة Sci Rep (2019)

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

بواسطة Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Hjortshøj, Tina Duelund, Fang, Mingyan, Bertelsen, Mette, Bech, Niels, Jensen, Hanne, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Møller, Lisbeth Birk, Grønskov, Karen
الحاوية / القاعدة Invest Ophthalmol Vis Sci (2020)

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

بواسطة Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna
الحاوية / القاعدة PLoS Genet (2018)

TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

بواسطة Forde, Natalie J., Kanaan, Ahmad S., Widomska, Joanna, Padmanabhuni, Shanmukha S., Nespoli, Ester, Alexander, John, Rodriguez Arranz, Juan I., Fan, Siyan, Houssari, Rayan, Nawaz, Muhammad S., Rizzo, Francesca, Pagliaroli, Luca, Zilhäo, Nuno R., Aranyi, Tamas, Barta, Csaba, Boeckers, Tobias M., Boomsma, Dorret I., Buisman, Wim R., Buitelaar, Jan K., Cath, Danielle, Dietrich, Andrea, Driessen, Nicole, Drineas, Petros, Dunlap, Michelle, Gerasch, Sarah, Glennon, Jeffrey, Hengerer, Bastian, van den Heuvel, Odile A., Jespersgaard, Cathrine, Möller, Harald E., Müller-Vahl, Kirsten R., Openneer, Thaïra J. C., Poelmans, Geert, Pouwels, Petra J. W., Scharf, Jeremiah M., Stefansson, Hreinn, Tümer, Zeynep, Veltman, Dick J., van der Werf, Ysbrand D., Hoekstra, Pieter J., Ludolph, Andrea, Paschou, Peristera
الحاوية / القاعدة Front Neurosci (2016)