Kristin Brandal

Polymorphisms in<i>CLEC16A</i>and<i>CIITA</i>at 16p13 Are Associated with Primary Adrenal Insufficiency

Beate Skinningsrud, Eystein S. Husebye, Simon H. S. Pearce et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 115 citations · Full text

Parental<i>SCN1A</i>mutation mosaicism in familial Dravet syndrome

A‐S Eriksson, Kristin Brandal, Thore Egeland et al. · Clinical Genetics · 2009 · 34 citations

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in<i>CENPF</i>

Isabel Filges, Elisabeth Bruder, Kristin Brandal et al. · Human Mutation · 2016 · 34 citations

Genetics, Genetic Epidemiology, Pathology +20

SCN1A mutation screening in adult patients with Lennox–Gastaut syndrome features

Kaja Kristine Selmer, Caroline Lund, Kristin Brandal et al. · Epilepsy & Behavior · 2009 · 31 citations

Scn1a Mutation, Mendelian Disorder, Genetic Disorder +6

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

Kaja Kristine Selmer, Gregor D. Gilfillan, Petter Strømme et al. · European Journal of Human Genetics · 2011 · 26 citations · Full text

Mild Form, Mucopolysaccharidosis Iiib, Genetics +26