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Page 1
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Faergeman SL, et al. Among authors: andersen bn. Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229113
Novel TRPV4 variant causes a severe form of metatropic dysplasia.
Graversen L, Haagerup A, Andersen BN, Petersen KK, Gjørup V, Gudmundsdottir G, Vogel I, Gregersen PA. Graversen L, et al. Among authors: andersen bn. Clin Case Rep. 2018 Jul 20;6(9):1774-1778. doi: 10.1002/ccr3.1598. eCollection 2018 Sep. Clin Case Rep. 2018. PMID: 30214761 Free PMC article.
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: andersen bn. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark.
Møller RS, Zhao L, Shoaff JR, Duno M, Andersen BN, Nguyen V, Fang TC, Kupelian V, Thorén R. Møller RS, et al. Among authors: andersen bn. Mol Genet Metab Rep. 2022 Oct 13;33:100924. doi: 10.1016/j.ymgmr.2022.100924. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36262748 Free PMC article.
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
Mazurkiewicz-Bełdzińska M, Del Toro M, Haliloğlu G, Huidekoper HH, Kravljanac R, Mühlhausen C, Andersen BN, Prpić I, Striano P, Auvin S. Mazurkiewicz-Bełdzińska M, et al. Among authors: andersen bn. Expert Rev Neurother. 2021 Nov;21(11):1275-1282. doi: 10.1080/14737175.2021.1885374. Epub 2021 Mar 4. Expert Rev Neurother. 2021. PMID: 33538188
Discovery of a Potent Adenine-Benzyltriazolo-Pleuromutilin Conjugate with Pronounced Antibacterial Activity against MRSA.
Heidtmann CV, Voukia F, Hansen LN, Sørensen SH, Urlund B, Nielsen S, Pedersen M, Kelawi N, Andersen BN, Pedersen M, Reinholdt P, Kongsted J, Nielsen CU, Klitgaard JK, Nielsen P. Heidtmann CV, et al. Among authors: andersen bn. J Med Chem. 2020 Dec 24;63(24):15693-15708. doi: 10.1021/acs.jmedchem.0c01328. Epub 2020 Dec 16. J Med Chem. 2020. PMID: 33325700
[Diagnosis, monitoring and treatment of tuberous sclerosis complex].
Reinhard M, Sunde L, Madsen MG, Andersen BN, Bendstrup E, Sommerlund M, Gjørup H, Larsen DA, Møller HU, Nielsen DG, Mortensen UM, Handrup MM, Aagaard NKM, Cortnum S, Khatir DS, Bayat M, Andersen G, Stausbøl-Grøn B, Christensen J. Reinhard M, et al. Among authors: andersen bn. Ugeskr Laeger. 2019 Nov 4;181(45):V05190293. Ugeskr Laeger. 2019. PMID: 31791451 Free article. Review. Danish.
63 results