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2018
- Contribution to journal Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Débora Romeo; Åström, Eva; Svensson, Johan ^LU ; Yamamoto, Guilherme Lopes; Hammarsjö, Anna; Horemuzova, Eva and Papadiogannakis, Nikos, et al. (2018) In Journal of Bone and Mineral Research 33(4). p.753-760 Mark
2015
- Contribution to journal Article
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham, Emma; Eklund, Erik A; Hammarsjö, Anna; Bengtson, Per ^LU ; Geiberger, Stefan; Lagerstedt-Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Grigelionis, Gintautas and Conner, Peter, et al. (2015) In European Journal of Human Genetics Mark
2010
- Contribution to journal Article
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
Lundin, Johanna; Soderhall, Cilla; Lunden, Lina; Hammarsjo, Anna; White, Irene; Schoumans, Jacqueline; Lackgren, Goran; Clementson Kockum, Christina ^LU and Nordenskjold, Agneta (2010) In European Journal of Medical Genetics 53(2). p.61-65 Mark

Lund University Publications

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