Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

por Tjeldhorn, Lena, Amundsen, Silja Svanstrøm, Barøy, Tuva, Rand-Hendriksen, Svend, Geiran, Odd, Frengen, Eirik, Paus, Benedicte
Publicado 2015

Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha

por Dahll, Louise Koren, Westbye, Alexander Bauer, Vinorum, Kristin, Sejersted, Yngve, Barøy, Tuva, Thorsby, Per Medbøe, Hammerstad, Sara Salehi
Publicado 2023

A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy

por Eriksen, Kathrine O., Wigers, Andreas Reidar, Wedding, Iselin Marie, Erichsen, Anne Kjersti, Barøy, Tuva, Søberg, Kristoffer, Jørstad, Øystein Kalsnes
Publicado 2022

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

por Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik
Publicado 2015

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

por Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Publicado 2016

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

por Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik
Publicado 2013

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

por Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana
Publicado 2020