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Author/Creator Tumer, Zeynep

1. A homozygous nonsense mutation (c.214C→A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis. Issue 4 (28th January 2011)

Authors:
Nytofte, Nikolaj S; Serrano, Maria A; Monte, Maria J; Gonzalez-Sanchez, Ester; Tumer, Zeynep; Ladefoged, Karin; Briz, Oscar; Marin, Jose J G
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 4(2011)
Page Start:
219
Record Type:
Journal Article
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2. The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease. (17th November 2017)

Authors:
Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning; Christiansen, Michael; Law, Ian; Lund, Allan M.; Norremolle, Anne; Krogh Rasmussen, Ase; Ravn, Kirstine; Tumer, Zeynep; Wibrand, Flemming; Feldt-Rasmussen, Ulla
Journal:
Scandinavian journal of clinical & laboratory investigation
Issue:
Volume 77:Number 8(2017)
Page Start:
617
Record Type:
Journal Article
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3. Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Issue 9 (30th June 2015)

Authors:
Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M; Pinto, Dalila; Vaags, Andrea K; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Ma...
Journal:
Human mutation
Issue:
Volume 36:Issue 9(2015:Sep.)
Page Start:
842
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗