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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 4
2004 5
2005 6
2006 9
2007 5
2008 7
2009 6
2010 4
2011 11
2012 6
2013 7
2014 9
2015 6
2016 2
2018 6
2019 5
2020 3
2021 1
2022 1
2024 0

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96 results

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Page 1
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.
Ahring KK, Dagnæs-Hansen F, Brüel A, Christensen M, Jensen E, Jensen TG, Johannsen M, Johansen KS, Lund AM, Madsen JG, Brøndum-Nielsen K, Pedersen M, Sørensen LK, Kjolby M, Møller LB. Ahring KK, et al. Among authors: brondum nielsen k. PLoS One. 2022 Jan 11;17(1):e0261150. doi: 10.1371/journal.pone.0261150. eCollection 2022. PLoS One. 2022. PMID: 35015767 Free PMC article.
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
Jespersgaard C, Bertelsen M, Arif F, Gellert-Kristensen HG, Fang M, Jensen H, Rosenberg T, Tümer Z, Møller LB, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: brondum nielsen k. Genes (Basel). 2020 Dec 18;11(12):1517. doi: 10.3390/genes11121517. Genes (Basel). 2020. PMID: 33353011 Free PMC article.
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.
Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K. Jespersgaard C, et al. Among authors: brondum nielsen k. Invest Ophthalmol Vis Sci. 2020 Feb 7;61(2):29. doi: 10.1167/iovs.61.2.29. Invest Ophthalmol Vis Sci. 2020. PMID: 32084271 Free PMC article.
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S. Christesen HT, et al. Among authors: brondum nielsen k. Eur J Med Genet. 2020 Jan;63(1):103632. doi: 10.1016/j.ejmg.2019.02.004. Epub 2019 Feb 21. Eur J Med Genet. 2020. PMID: 30797057 Free article.
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. Among authors: brondum nielsen k. Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7. Clin Genet. 2019. PMID: 30417326 Review.
96 results