Jespersgaard, Cathrine
27  results:
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4

A pathogenic haplotype, common in Europeans, causes autosom..:

Grønskov, Karen ; Jespersgaard, Cathrine ; Bruun, Gitte Hoffmann...
https://orbit.dtu.dk/en/publications/cafe7302-04b0-4200-bd48-b362ae2fe42c.  , 2019
 
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A pathogenic haplotype, common in Europeans, causes autosom..:

Grønskov, Karen ; Jespersgaard, Cathrine ; Bruun, Gitte Hoffmann...
Grønskov , K , Jespersgaard , C , Bruun , G H , Harris , P , Brøndum-Nielsen , K , Andresen , B S & Rosenberg , T 2019 , ' A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 ' , Scientific Reports , vol. 9 , no. 1 , 645 . https://doi.org/10.1038/s41598-018-37272-5.  , 2019
 
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Mosaic MECP2 variants in males with classical Rett syndrome..:

Schönewolf-Greulich, Bitten ; Bisgaard, Anne-Marie ; Dunø, Morten...
Schönewolf-Greulich , B , Bisgaard , A-M , Dunø , M , Jespersgaard , C , Rokkjaer , M , Hansen , L K , Tsoutsou , E , Sofokleous , C , Topcu , M , Kaur , S , Van Bergen , N J , Brøndum-Nielsen , K , Larsen , M J , Sørensen , K P , Christodoulou , J , Fagerberg , C R & Tümer , Z 2019 , ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ' , Clinical Genetics , vol. 95 , no. 3 , pp. 403-408 . https://doi.org/10.1111/cge.13473.  , 2019
 
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Clinician's guide to genes associated with Rett-like phenot..:

Schönewolf-Greulich, Bitten ; Bisgaard, Anne-Marie ; Møller, Rikke S...
Schönewolf-Greulich , B , Bisgaard , A-M , Møller , R S , Dunø , M , Brøndum-Nielsen , K , Kaur , S , Van Bergen , N J , Lunke , S , Eggers , S , Jespersgaard , C , Christodoulou , J & Tümer , Z 2019 , ' Clinician's guide to genes associated with Rett-like phenotypes : Investigation of a Danish cohort and review of the literature ' , Clinical Genetics , vol. 95 , no. 2 , pp. 221-230 . https://doi.org/10.1111/cge.13153.  , 2019
 
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15

TS-EUROTRAIN:A European-Wide Investigation and Training Net..:

Forde, Natalie J ; Kanaan, Ahmad S ; Widomska, Joanna...
Forde , N J , Kanaan , A S , Widomska , J , Padmanabhuni , S S , Nespoli , E , Alexander , J , Rodriguez Arranz , J I , Fan , S , Houssari , R , Nawaz , M S , Rizzo , F , Pagliaroli , L , Zilhäo , N R , Aranyi , T , Barta , C , Boeckers , T M , Boomsma , D I , Buisman , W R , Buitelaar , J K , Cath , D , Dietrich , A , Driessen , N , Drineas , P , Dunlap , M , Gerasch , S , Glennon , J , Hengerer , B , van den Heuvel , O A , Jespersgaard , C , Möller , H E , Müller-Vahl , K R , Openneer , T J C , Poelmans , G , Pouwels , P J W , Scharf , J M , Stefansson , H , Tümer , Z , Veltman , D J , van der Werf , Y D , Hoekstra , P J , Ludolph , A & Paschou , P 2016 , ' TS-EUROTRAIN : A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome ' , Frontiers in Neuroscience , vol. 10 , pp. 384 . https://doi.org/10.3389/fnins.2016.00384.  , 2016
 
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