Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strate...

por Østern, Rune, Fagerheim, Toril, Hjellnes, Helene, Nygård, Bjørn, Mellgren, Svein I, Nilssen, Øivind
Publicado 2013

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

por Østern, Rune, Fagerheim, Toril, Hjellnes, Helene, Nygård, Bjørn, Mellgren, Svein Ivar, Nilssen, Øivind
Publicado 2014

Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction

por Alhamidi, Maisoon, Kjeldsen Buvang, Elisabeth, Fagerheim, Toril, Brox, Vigdis, Lindal, Sigurd, Van Ghelue, Marijke, Nilssen, Øivind
Publicado 2011

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

por Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
Publicado 2015

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

por Løseth, Sissel, Høyer, Helle, Le, Kim-Mai, Delpire, Eric, Kinge, Einar, Lande, Asgeir, Hilmarsen, Hilde Tveitan, Fagerheim, Toril, Nilssen, Øivind, Braathen, Geir Julius
Publicado 2022

Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density

por Biong, Margarethe, Gram, Inger T, Brill, Ilene, Johansen, Fredrik, Solvang, Hiroko K, Alnaes, Grethe IG, Fagerheim, Toril, Bremnes, Yngve, Chanock, Stephen J, Burdett, Laurie, Yeager, Meredith, Ursin, Giske, Kristensen, Vessela N
Publicado 2010