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2021
Mark De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena ; Edani, Ban H ; Martinelli, Simone ; Hansikova, Hana ; Eklund, Erik A ^LU ; Caputi, Caterina ; Masuelli, Laura ; Corsten-Janssen, Nicole ; Srour, Myriam and Oegema, Renske , et al. (2021) In Brain : a journal of neurology
- Contribution to journal › Article
2020
Mark SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Rieke, Johanna Magdalena ; Zhang, Rong ; Braun, Doreen ; Yilmaz, Öznur ; Japp, Anna S. ; Lopes, Filipa M. ; Pleschka, Michael ; Hilger, Alina C. ; Schneider, Sophia and Newman, William G. , et al. (2020) In Frontiers in cell and developmental biology 8.
- Contribution to journal › Article
2017
Mark ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
Zhang, Rong ; Knapp, Michael ; Suzuki, Kentaro ; Kajioka, Daiki ; Schmidt, Johanna M. ; Winkler, Jonas ; Yilmaz, Öznur ; Pleschka, Michael ; Cao, Jia and Kockum, Christina Clementson ^LU , et al. (2017) In Scientific Reports 7.
- Contribution to journal › Article
2015
Mark Variation in Glucose Homeostasis Traits Associated With P2RX7 Polymorphisms in Mice and Humans
Todd, Jennifer N. ; Poon, Wenny ^LU ; Lyssenko, Valeriya ^LU ; Groop, Leif ^LU ; Nichols, Brendan ; Wilmot, Michael ; Robson, Simon ; Enjyoji, Keiichi ; Herman, Mark A. and Hu, Cheng , et al. (2015) In Journal of Clinical Endocrinology and Metabolism 100(5). p.688-696
- Contribution to journal › Article
2014
Mark Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
Mahajan, Anubha ; Go, Min Jin ; Zhang, Weihua ; Below, Jennifer E. ; Gaulton, Kyle J. ; Ferreira, Teresa ; Horikoshi, Momoko ; Johnson, Andrew D. ; Ng, Maggie C. Y. and Prokopenko, Inga , et al. (2014) In Nature Genetics 46(3). p.234-234
- Contribution to journal › Article
2013
Mark Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity
Asai, Masato ; Ramachandrappa, Shwetha ; Joachim, Maria ; Shen, Yuan ; Zhang, Rong ; Nuthalapati, Nikhil ; Ramanathan, Visali ; Strochlic, David E. ; Ferket, Peter and Linhart, Kirsten , et al. (2013) In Science 341(6143). p.275-278
- Contribution to journal › Article

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