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

Year Number of Results
1981 6
1982 4
1983 4
1984 4
1985 9
1986 6
1987 5
1988 5
1989 6
1990 3
1991 9
1992 7
1993 11
1994 4
1995 8
1996 10
1997 10
1998 10
1999 9
2000 6
2001 12
2002 7
2003 5
2004 9
2005 12
2006 16
2007 17
2008 13
2009 11
2010 15
2011 15
2012 16
2013 12
2014 11
2015 13
2016 9
2017 10
2018 11
2019 6
2020 5
2021 3
2022 1
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Article type
Publication date

Search Results

342 results
Results by year
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Page 1
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. Larsen J, et al. Among authors: tommerup n. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients.
Bliddal S, Banasik K, Pedersen OB, Nissen J, Cantwell L, Schwinn M, Tulstrup M, Westergaard D, Ullum H, Brunak S, Tommerup N, Feenstra B, Geller F, Ostrowski SR, Grønbæk K, Nielsen CH, Nielsen SD, Feldt-Rasmussen U. Bliddal S, et al. Among authors: tommerup n. Sci Rep. 2021 Jun 23;11(1):13153. doi: 10.1038/s41598-021-92045-x. Sci Rep. 2021. PMID: 34162913 Free PMC article.
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, Mathiasen R, Lautrup CK, Gregersen PA, Hasle H, Wehner PS, Tuckuviene R, Sackett PW, Laspiur AO, Rossing M, Marvig RL, Tommerup N, Olsen TE, Scheie D, Gupta R, Gerdes AM, Schmiegelow K, Wadt K. Byrjalsen A, et al. Among authors: tommerup n. PLoS Genet. 2020 Dec 17;16(12):e1009231. doi: 10.1371/journal.pgen.1009231. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33332384 Free PMC article.
Sequence assembly.
Scheibye-Alsing K, Hoffmann S, Frankel A, Jensen P, Stadler PF, Mang Y, Tommerup N, Gilchrist MJ, Nygård AB, Cirera S, Jørgensen CB, Fredholm M, Gorodkin J. Scheibye-Alsing K, et al. Among authors: tommerup n. Comput Biol Chem. 2009 Apr;33(2):121-36. doi: 10.1016/j.compbiolchem.2008.11.003. Epub 2008 Dec 6. Comput Biol Chem. 2009. PMID: 19152793 Review.
Chromothripsis and DNA Repair Disorders.
Nazaryan-Petersen L, Bjerregaard VA, Nielsen FC, Tommerup N, Tümer Z. Nazaryan-Petersen L, et al. Among authors: tommerup n. J Clin Med. 2020 Feb 25;9(3):613. doi: 10.3390/jcm9030613. J Clin Med. 2020. PMID: 32106411 Free PMC article. Review.
Isolated and syndromic forms of congenital anosmia.
Karstensen HG, Tommerup N. Karstensen HG, et al. Among authors: tommerup n. Clin Genet. 2012 Mar;81(3):210-5. doi: 10.1111/j.1399-0004.2011.01776.x. Epub 2011 Oct 12. Clin Genet. 2012. PMID: 21895637 Review.
Haploinsufficiency of ARHGAP42 is associated with hypertension.
Fjorder AS, Rasmussen MB, Mehrjouy MM, Nazaryan-Petersen L, Hansen C, Bak M, Grarup N, Nørremølle A, Larsen LA, Vestergaard H, Hansen T, Tommerup N, Bache I. Fjorder AS, et al. Among authors: tommerup n. Eur J Hum Genet. 2019 Aug;27(8):1296-1303. doi: 10.1038/s41431-019-0382-9. Epub 2019 Mar 21. Eur J Hum Genet. 2019. PMID: 30903111 Free PMC article.
Challenges for the Sustainability of University-Run Biobanks.
Kongsholm NCH, Christensen ST, Hermann JR, Larsen LA, Minssen T, Pedersen LB, Rajam N, Tommerup N, Tupasela A, Schovsbo J. Kongsholm NCH, et al. Among authors: tommerup n. Biopreserv Biobank. 2018 Aug;16(4):312-321. doi: 10.1089/bio.2018.0054. Epub 2018 Jul 17. Biopreserv Biobank. 2018. PMID: 30016130
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
Abdullah U, Farooq M, Fatima A, Tauseef W, Sarwar Y, Nuri M, Tommerup N, Baig SM. Abdullah U, et al. Among authors: tommerup n. Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097. Nephrology (Carlton). 2017. PMID: 28921755 Review.
Abdominal Wall Defects in Greenland 1989-2015.
Bugge M, Drachmann G, Kern P, Budtz-Jørgensen E, Eiberg H, Olsen B, Tommerup N, Nielsen IM. Bugge M, et al. Among authors: tommerup n. Birth Defects Res. 2017 Jul 3;109(11):836-842. doi: 10.1002/bdr2.1025. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464537
342 results