Variant-beta luteinizing hormone is not associated with poor ovarian response to controlled ovarian hyperstimulation

por Hanevik, Hans I, Hilmarsen, Hilde T, Skjelbred, Camilla F, Tanbo, Tom, Kahn, Jarl A
Publicado 2014

Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India

por George, Renu, Santhanam, Sridhar, Samuel, Rekha, Chapla, Aaron, Hilmarsen, Hilde Tveitan, Braathen, Geir Julius, Reinholt, Finn P., Jahnsen, Frode, Khnykin, Denis
Publicado 2015

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

por Høyer, Helle, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L., Svendsen, Marit, Hilmarsen, Hilde T., Strand, Linda, Skjelbred, Camilla F., Russell, Michael B.
Publicado 2014

Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”

por Høyer, Helle, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L., Svendsen, Marit, Hilmarsen, Hilde T., Strand, Linda, Skjelbred, Camilla F., Russell, Michael B.
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

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

por Høyer, Helle, Busk, Øyvind L., Esbensen, Q. Ying., Røsby, Oddveig, Hilmarsen, Hilde T., Russell, Michael B., Nyman, Tuula A., Braathen, Geir J., Nilsen, Hilde L.
Publicado 2022

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

por Høyer, Helle, Hilmarsen, Hilde T, Sunder-Plassmann, Raute, Braathen, Geir J, Andersen, Peter M, Beetz, Christian, Hacker, Sandra, Holla, Øystein L, Kurth, Ingo, Löscher, Wolfgang N, Reiter, Simone B C F, Rudnik-Schöneborn, Sabine, Strand, Linda, Windhager, Reinhard, Witsch-Baumgartner, Martina, Senderek, Jan, Auer-Grumbach, Michaela
Publicado 2022