Tuva Barøy

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Tuva Barøy, Janet Koster, Petter Strømme et al. · Human Molecular Genetics · 2015 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Eva Hladílková, Tuva Barøy, Madeleine Fannemel et al. · Molecular Cytogenetics · 2015 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

Madeleine Fannemel, Tuva Barøy, Asbjørn Holmgren et al. · European Journal of Medical Genetics · 2014 · 63 citations

Life Sciences, Genetics, Molecular Genetics +14

SCA27 caused by a chromosome translocation: further delineation of the phenotype

Doriana Misceo, Madeleine Fannemel, Tuva Barøy et al. · Neurogenetics · 2009 · 53 citations

Life Sciences, Genetics, Molecular Genetics +13

A translocation between Xq21.33 and 22q13.33 causes an intragenic <i>SHANK3</i> deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

Doriana Misceo, Olaug K. Rødningen, Tuva Barøy et al. · American Journal of Medical Genetics Part A · 2011 · 36 citations

Life Sciences, Genetics, Molecular Genetics +16