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Epilepsy & Behavior : E&B|September 29, 2009
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome featuresKaja Kristine Selmer, Caroline Lund, Kristin Brandal, et al.
Genetic Testing|January 27, 2007
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategyLena Tjeldhorn, Svend Rand-Hendriksen, Kristina Gervin, et al.
Journal of Biomolecular Screening|January 28, 2009
Genome-wide linkage analysis with clustered SNP markersKaja K Selmer, Kristin Brandal, Ole K Olstad, et al.
Acta Ophthalmologica|February 3, 2009
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS geneKaja Kristine Selmer, Jan Grøndahl, Ruth Riise, et al.
The Journal of Clinical Endocrinology and Metabolism|July 3, 2008
Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiencyBeate Skinningsrud, Eystein S Husebye, Simon H Pearce, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regionsKaja K Selmer, Gregor D Gilfillan, Petter Strømme, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
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