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2022
Mark Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Eisfeldt, Jesper ; Rezayee, Fatemah ; Pettersson, Maria ^LU ; Lagerstedt, Kristina ; Malmgren, Helena ; Falk, Anna ^LU ; Grigelioniene, Giedre and Lindstrand, Anna (2022) In Human Mutation
- Contribution to journal › Article
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
2014
Mark A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
Soderhall, Cilla ; Lundin, Johanna ; Lagerstedt-Robinson, Kristina ; Grigelioniene, Giedre ; Lackgren, Goran ; Clementson Kockum, Christina ^LU and Nordenskjold, Agneta (2014) In European Journal of Pediatric Surgery 24(4). p.353-359
- Contribution to journal › Article
Mark Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell, Tobias ; Nilsson, Daniel ; Hofmeister, Wolfgang ; Lindstrand, Anna ; Ahituv, Nadav ; Vandermeer, Julia ; Amilon, Anders ; Annerén, Göran ; Arner, Marianne and Pettersson, Maria , et al. (2014) In Molecular Genetics & Genomic Medicine 2(5). p.402-411
- Contribution to journal › Article
2001
Mark Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene, Giedre ; Schoumans, Jacqueline ; Neumeyer, Lo ; Ivarsson, Sten ^LU ; Eklof, Ole ; Enkvist, Ove ; Tordai, Paul ; Fosdal, Inger ; Myhre, Anne and Westphal, Otto , et al. (2001) In Human Genetics 109(5). p.551-558
- Contribution to journal › Article

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