Brandal K - Search Results

1

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: brandal k. Hum Mutat. 2016 Jul;37(7):711. doi: 10.1002/humu.22997. Epub 2016 Apr 15. Hum Mutat. 2016. PMID: 27300082 No abstract available.

2

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: brandal k. Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108

3

SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features.

Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E. Selmer KK, et al. Among authors: brandal k. Epilepsy Behav. 2009 Nov;16(3):555-7. doi: 10.1016/j.yebeh.2009.08.021. Epub 2009 Sep 24. Epilepsy Behav. 2009. PMID: 19782004

4

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE. Selmer KK, et al. Among authors: brandal k. Eur J Hum Genet. 2012 Jan;20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29. Eur J Hum Genet. 2012. PMID: 21712855 Free PMC article.

5

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.

Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE. Selmer KK, et al. Among authors: brandal k. Acta Ophthalmol. 2010 May;88(3):323-8. doi: 10.1111/j.1755-3768.2008.01465.x. Epub 2009 Jan 30. Acta Ophthalmol. 2010. PMID: 19183411 Free article.

6

Genome-wide linkage analysis with clustered SNP markers.

Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T. Selmer KK, et al. Among authors: brandal k. J Biomol Screen. 2009 Jan;14(1):92-6. doi: 10.1177/1087057108327327. J Biomol Screen. 2009. PMID: 19171925

7

Parental SCN1A mutation mosaicism in familial Dravet syndrome.

Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. Selmer KK, et al. Among authors: brandal k. Clin Genet. 2009 Oct;76(4):398-403. doi: 10.1111/j.1399-0004.2009.01208.x. Epub 2009 Aug 10. Clin Genet. 2009. PMID: 19673951

8

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE. Selmer KK, et al. Among authors: brandal k. Acta Neurol Scand. 2008 Apr;117(4):289-92. doi: 10.1111/j.1600-0404.2007.00941.x. Epub 2007 Oct 10. Acta Neurol Scand. 2008. PMID: 17927801

9

Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency.

Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Wolff AB, Løvås K, Egeland T, Undlien DE. Skinningsrud B, et al. Among authors: brandal k. J Clin Endocrinol Metab. 2008 Sep;93(9):3310-7. doi: 10.1210/jc.2008-0821. Epub 2008 Jul 1. J Clin Endocrinol Metab. 2008. PMID: 18593762

10

Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B. Tjeldhorn L, et al. Among authors: brandal k. Genet Test. 2006 Winter;10(4):258-64. doi: 10.1089/gte.2006.258-264. Genet Test. 2006. PMID: 17253931

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