Pernille Mathiesen Tørring

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 159 citations · Full text

Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Henrik Nissen et al. · Acta Neurologica Scandinavica · 2013 · 62 citations

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

Pernille Mathiesen Tørring, Klaus Brusgaard, Lilian Bomme Ousager et al. · Clinical Genetics · 2013 · 52 citations

Genetic Testing, Genetics, Genetic Epidemiology +18

<scp>JP–HHT</scp> phenotype in Danish patients with <i><scp>SMAD4</scp></i> mutations

Anne Marie Jelsig, Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen et al. · Clinical Genetics · 2015 · 36 citations

Is MED13L-related intellectual disability a recognizable syndrome?

Pernille Mathiesen Tørring, Martin J. Larsen, Charlotte Brasch‐Andersen et al. · European Journal of Medical Genetics · 2018 · 36 citations · Full text

Intellectual Impairment, Neuropsychology, Psychiatry +6