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2020
Mark Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Chen, Yin Huai ; Grigelioniene, Giedre ; Newton, Phillip T. ; Gullander, Jacob ^LU ; Elfving, Maria ^LU ; Hammarsjö, Anna ; Batkovskyte, Dominyka ; Alsaif, Hessa S. ; Kurdi, Wesam I.Y. and Abdulwahab, Firdous , et al. (2020) In The Journal of experimental medicine 217(3).
- Contribution to journal › Article
2018
Mark 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
- Contribution to journal › Article
2015
Mark 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
- Contribution to journal › Article
2010
Mark 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
- Contribution to journal › Article

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