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Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB. Møller LB, et al. Mol Genet Metab. 2018 Dec;125(4):361. doi: 10.1016/j.ymgme.2017.11.007. Epub 2018 Jan 8. Mol Genet Metab. 2018. PMID: 29325814 No abstract available.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Schönewolf-Greulich B, Bisgaard AM, Dunø M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brøndum-Nielsen K, Larsen MJ, Sørensen KP, Christodoulou J, Fagerberg CR, Tümer Z. Schönewolf-Greulich B, et al. Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7. Clin Genet. 2019. PMID: 30417326 Review.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Lildballe DL, Frederiksen AL, Schönewolf-Greulich B, Brasch-Andersen C, Lautrup CK, Karstensen HG, Pedersen IS, Sunde L, Risom L, Rasmussen M, Bertelsen M, Andersen MK, Rendtorff ND, Gregersen PA, Tørring PM, Hammer-Hansen S, Boonen SE, Lindquist SG, Hammer TB, Diness BR. Lildballe DL, et al. Among authors: schonewolf greulich b. Eur J Med Genet. 2023 Dec;66(12):104872. doi: 10.1016/j.ejmg.2023.104872. Epub 2023 Nov 13. Eur J Med Genet. 2023. PMID: 37967791
27 results