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2023
Mark The Swedish COG6-CDG experience and a comprehensive literature review
Xia, Zhi Jie ; Ng, Bobby G. ; Jennions, Elizabeth ; Blomqvist, Maria ; Sandqvist Wiklund, Anneli ; Hedberg-Oldfors, Carola ^LU ; Gonzalez, Carlos Rodriguez ; Freeze, Hudson H. ; Ygberg, Sofia and Eklund, Erik A. ^LU (2023) In JIMD Reports 64(1). p.79-89
- Contribution to journal › Article
Mark HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
Vollmer, Shobitha ; Katzman, Per ^LU and Londahl, Magnus ^LU (2023) In BMJ Case Reports 16(2).
- Contribution to journal › Article
Mark Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
Gurol, Kerem C. ; Li, Danyang ; Broberg, Karin ^LU and Mukhopadhyay, Somshuvra (2023) In American journal of physiology. Gastrointestinal and liver physiology 324(1). p.78-88
- Contribution to journal › Article
Mark Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets
Bacos, Karl ^LU ; Perfilyev, Alexander ^LU ; Karagiannopoulos, Alexandros ^LU ; Cowan, Elaine ^LU ; Ofori, Jones K ^LU ; Bertonnier-Brouty, Ludivine ^LU ; Rönn, Tina ^LU ; Lindqvist, Andreas ^LU ; Luan, Cheng ^LU and Ruhrmann, Sabrina ^LU , et al. (2023) In The Journal of clinical investigation 133(4).
- Contribution to journal › Article
Mark Genome-wide analysis of KMT2A-rearranged leukemia
Pilheden, Mattias ^LU (2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series
- Thesis › Doctoral thesis (compilation)
Mark A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
Coral, Daniel E ^LU ; Fernandez-Tajes, Juan ^LU ; Tsereteli, Neli ^LU ; Pomares-Millan, Hugo ^LU ; Fitipaldi, Hugo ^LU ; Mutie, Pascal M ^LU ; Atabaki-Pasdar, Naeimeh ^LU ; Kalamajski, Sebastian ^LU ; Poveda, Alaitz ^LU and Miller-Fleming, Tyne W , et al. (2023) In Nature Metabolism 5(2). p.237-247
- Contribution to journal › Article
Mark The genetic regulation of protein expression in cerebrospinal fluid
Hansson, Oskar ^LU ; Kumar, Atul ^LU ; Janelidze, Shorena ^LU ; Stomrud, Erik ^LU ; Insel, Philip S. ^LU ; Blennow, Kaj ^LU ; Zetterberg, Henrik ^LU ; Fauman, Eric ; Hedman, Åsa K. and Nagle, Michael W. , et al. (2023) In EMBO Molecular Medicine 15(1).
- Contribution to journal › Article
Mark Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Wilcox, N. ; Wahlström, C. ^LU ; Kvist, A. ^LU and Simard, J. (2023) In Nature Genetics 55(9). p.1435-1439
- Contribution to journal › Article
Mark Epigenetics and Obesity
Ling, Charlotte ^LU and Garcia-Calzon, Sonia ^LU (2023) 1. p.139-147
- Chapter in Book/Report/Conference proceeding › Book chapter
Mark Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K. ; de Bruijn, Suzanne E. ; Reurink, Janine ; Boonen, Erica G.M. ; Khan, Muhammad Imran ; Ali, Manir ; Andréasson, Sten ^LU and De Baere, Elfride , et al. (2023) In Frontiers in Cell and Developmental Biology 11.
- Contribution to journal › Article

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