학술논문
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'학술논문'
에서 검색결과 111건 | 목록
1~20
Academic Journal
Lildballe, Dorte Launholt; Huno, Morten Reiffenstein; Ridder, Lukas Ochsner Reynaud; Balle, Camilla Mains; Drue, Simon Opstrup; Berglund, Agnethe; Dunø, Morten; Bak, Ebbe Norskov; Viuff, Mette Hansen; Rasmussen, Laura Skak; Gravholt, Claus Højbjerg
European Journal of Human Genetics. :1-8
Academic Journal
Granhoj, Jeff; Pedersen, Katja Venborg; Aagaard, Mads Malik; Graakjaer, Jesper Aagaard; Lildballe, Dorte Launholt; Birn, Henrik; Rasmussen, Maria
Clinical Kidney Journal. July, 2024, Vol. 17 Issue 7, p1t, 9 p.
Academic Journal
Dorte Launholt Lildballe; Naja Becher; Else Marie Vestergaard; Rikke Christensen; Stina Lou; Puk Sandager; Lars Henning Pedersen; Kasper Gadsbøll; Olav Bjørn Petersen; Ida Vogel
Acta Obstetricia et Gynecologica Scandinavica, Vol 102, Iss 11, Pp 1505-1510 (2023)
Academic Journal
Christiansen, Morten Krogh, MD, PhD; Kjær-Sørensen, Kasper, PhD; Clavsen, Natacha C., MSc; Dittmann, Sven, PhD; Jensen, Maja Fuhlendorff, MSc; Guldbrandsen, Halvor Østerby, BMed; Pedersen, Lisbeth Nørum, MSc, PhD; Sørensen, Rikke Hasle, MSc; Lildballe, Dorte Launholt, MSc, PhD; Müller, Klara, MSc; Müller, Patrick, MD; Vogel, Kira, MStud; Rudic, Boris, MD; Borggrefe, Martin, MD; Oxvig, Claus, PhD; Aalkjær, Christian, MD, DMSc; Schulze-Bahr, Eric, MD, PhD; Matchkov, Vladimir, PhD, DMSc; Bundgaard, Henning, MD, DMSc; Jensen, Henrik Kjærulf, MD, PhD, DMSc
Heart Rhythm. 20(8):1136-1143
Conference
Birkebæk, N & Lildballe , D L 2023, 'Two male siblings with extremely tall stature, moderate mental retardation and a deletion of ASH1L at chromosome 1q22', Hormone Research in Paediatrics, vol. 96, no. Suppl. 4. https://doi.org/10.1159/000533803
Academic Journal
Erbs, Emilie ; Fenger-Grøn, Jesper ; Jacobsen, Cecilie Mondrup ; Lildballe, Dorte Launholt ; Rasmussen, Maria
In European Journal of Medical Genetics August 2021 64(8)
Academic Journal
Terkelsen, Thorkild; Hansen, Thomas Folkmann; Herlin, Morten Krogh; Djursby, Malene; Nyegaard, Mette; Pedersen, Inge Søkilde; Lildballe, Dorte Launholt; Færgeman, Søren Lejsted; Sunde, Lone; Hauberg, Mads Engel
Terkelsen, T, Hansen, T F, Herlin, M K, Djursby, M, Nyegaard, M, Pedersen, I S, Lildballe , D L, Færgeman, S L, Sunde, L & Hauberg, M E 2023, 'Klinisk anvendelse af polygene risikoscorer', Ugeskrift for Læger, bind 185, V04230258. < https://ugeskriftet.dk/videnskab/klinisk-anvendelse-af-polygene-risikoscorer >
Terkelsen, T, Hansen, T F, Herlin, M K, Djursby, M, Nyegaard, M, Pedersen, I S,Lildballe , D L, Færgeman, S L, Sunde, L & Hauberg, M E 2023, 'Klinisk anvendelse af polygene risikoscorer', Ugeskrift for Læger, bind 185, nr. 39, V04230258.
Terkelsen, T, Hansen, T F, Herlin, M K, Djursby, M, Nyegaard, M, Pedersen, I S,Lildballe , D L, Færgeman, S L, Sunde, L & Hauberg, M E 2024, 'Klinisk anvendelse af polygene risikoscorer', Ugeskrift for Læger, bind 186, nr. 4, s. 317-320.
Terkelsen, T, Hansen, T F, Herlin, M K, Djursby, M, Nyegaard, M, Pedersen, I S,
Terkelsen, T, Hansen, T F, Herlin, M K, Djursby, M, Nyegaard, M, Pedersen, I S,
Academic Journal
Line Dahl Jeppesen; Lotte Hatt; Ripudaman Singh; Palle Schelde; Katarina Ravn; Christian Liebst Toft; Maria Bach Laursen; Jakob Hedegaard; Inga Baasch Christensen; Bolette Hestbek Nicolaisen; Lotte Andreasen; Lars Henning Pedersen; Ida Vogel; Dorte Launholt Lildballe
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Kirstine Calloe; Helena B. D. Magnusson; Dorte Launholt Lildballe; Morten Krogh Christiansen; Henrik Kjærulf Jensen
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Academic Journal
Vaeth, Signe ; Christensen, Rikke ; Dunø, Morten ; Lildballe, Dorte Launholt ; Thorsen, Kasper ; Vissing, John ; Svenstrup, Kirsten ; Hertz, Jens Michael ; Andersen, Henning ; Jensen, Uffe Birk
In European Journal of Medical Genetics January 2019 62(1):1-8
Academic Journal
Granhøj, Jeff; Pedersen, Katja Vendborg; Lildballe, Dorte Launholt; Birn, Henrik; Jørgensen, Mads Malik Aagaard; Graakjær, Jesper Aagaard; Rasmussen, Maria
Nephrology Dialysis Transplantation. 37
Academic Journal
Aamann, Luise; Ørntoft, Nikolaj; Vogel, Ida; Grønbaek, Henning; Becher, Naja; Vilstrup, Hendrik; Ott, Peter; Lildballe, Dorte Launholt
Aamann, L, Ørntoft, N, Vogel, I, Grønbaek, H, Becher, N, Vilstrup, H, Ott, P & Lildballe , D L 2018, 'Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination', Scandinavian Journal of Gastroenterology, vol. 53, no. 3, pp. 305-311. https://doi.org/10.1080/00365521.2017.1422800
Academic Journal
Rasmussen, Maria; Sunde, Lone; Weigert, Karen Petra; Bogaard, Pauline Wilhemina; Lildballe, Dorte Launholt
Rasmussen, M, Sunde, L, Weigert, K P D, Bogaard, P W S & Lildballe , D L 2014, 'Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing', American Journal of Medical Genetics. Part A, vol. 164, no. 5, pp. 1318-1321. https://doi.org/10.1002/ajmg.a.36454
Rasmussen, M, Sunde, L, Weigert, K P D, Bogaard, P W S &Lildballe , D L 2014, ' Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing ', American Journal of Medical Genetics. Part A, vol. 164, no. 5, pp. 1318-1321 . https://doi.org/10.1002/ajmg.a.36454
Rasmussen, M, Sunde, L, Weigert, K P, Bogaard, P W &Lildballe , D L 2014, 'Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing', American Journal of Medical Genetics-Part A, vol. 164A, pp. 1318–1321.
Rasmussen, M, Sunde, L, Weigert, K P D, Bogaard, P W S &
Rasmussen, M, Sunde, L, Weigert, K P, Bogaard, P W &
Academic Journal
Greibe, Eva; Lildballe, Dorte Launholt; við Streym, Susanna; Vestergaard, Peter; Rejnmark, Lars; Mosekilde, Leif; Nexø, Ebba
Greibe, E, Lildballe , D L, Streym, S, Vestergaard, P, Rejnmark, L, Mosekilde, L & Nexo, E 2013, 'Cobalamin and haptocorrin in human milk and cobalamin-related variables in mother and child : a 9-mo longitudinal study', American Journal of Clinical Nutrition, vol. 98, no. 2, pp. 389-395. https://doi.org/10.3945/ajcn.113.058479
Greibe, E,Lildballe , D L, við Streym, S, Vestergaard, P, Rejnmark, L, Mosekilde, L & Nexø, E 2013, 'Cobalamin and haptocorrin in human milk and cobalamin-related variables in mother and child : a 9-mo longitudinal study', American Journal of Clinical Nutrition, vol. 98, no. 2, pp. 389-95. https://doi.org/10.3945/ajcn.113.058479.
Greibe, E,
Academic Journal
Academic Journal
Stros, M, Launholt , D & Grasser, K D 2007, 'The HMG-box: a versatile protein domain occurring in a wide variety of DNA-binding proteins', Cellular and Molecular Life Sciences, vol. 64, no. 19-20, pp. 2590-2606.
Stros, M,Lildballe , D L & Grasse, K D 2007, 'The HMG-box: a versatile protein domain occurring in a wide variety of DNA-binding proteins.', Cellular and Molecular Life Sciences, vol. 64, no. (19-20), pp. 2590-606.
Stros, M,
Academic Journal
Thomsen, M S, Franssen, L, Launholt , D, Grasser, K D & Fojan, P 2004, 'Interactions of the basic N-terminal and the acidic C-terminal domains of the maize chromosomal HMGB1 protein', Biochemistry, vol. 43, no. 25, pp. 8029-8037.
Thomsen, M S, Franssen, L,Launholt , D, Grasser, K D & Fojan, P 2004, ' Interactions of the basic N-terminal and the acidic C-terminal domains of the maize chromosomal HMGB1 protein ', Biochemistry, vol. 43, no. 25, pp. 8029-8037 .
Thomsen, M S, Franssen, L,Lildballe , D L, Fojan, P & Grasser, K D 2004, 'Interactions of the basic N-terminal and the acidic C-terminal domains of the maize chromosomal HMGB1 protein.', Biochemistry, vol. 43, no. (25), pp. 8029-37.
Thomsen, M S, Franssen, L,
Thomsen, M S, Franssen, L,
Academic Journal
Vestergaard, Else Marie; Singh, Ripudaman; Schelde, Palle; Hatt, Lotte; Ravn, Katarina; Christensen, Rikke; Lildballe, Dorte Launholt; Petersen, Olav Bjørn; Uldbjerg, Niels; Vogel, Ida
Prenatal Diagnosis. Nov 01, 2017 37(11):1120-1124
The effect of ckd associated snps on the progression of autosomal dominant polycystic kidney disease
Academic Journal
Nielsen, M L, Lildballe , D L, Jorgensen, M, Rasmussen, M & Birn, H 2020, ' The effect of ckd associated snps on the progression of autosomal dominant polycystic kidney disease ', Nephrology Dialysis Transplantation, vol. 35, no. Suppl. 3, pp. 334 . https://doi.org/10.1093/ndt/gfaa142.P0036
Academic Journal
Vestergaard, Else Marie; Singh, Ripudaman; Schelde, Palle; Hatt, Lotte; Ravn, Katarina; Christensen, Rikke; Lildballe, Dorte Launholt; Petersen, Olav Bjørn; Uldbjerg, Niels; Vogel, Ida
Prenatal Diagnosis. Nov 01, 2017 37(11):i-i
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