Sara Ekvall

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

AM Nyström, Sara Ekvall, Eldon B. Berglund et al. · Journal of Medical Genetics · 2008 · 95 citations

Life Sciences, Genetics, Molecular Genetics +12

<i>MuSK</i>: a new target for lethal fetal akinesia deformation sequence (FADS)

Maria Wilbe, Sara Ekvall, Karin Eurenius et al. · Journal of Medical Genetics · 2015 · 52 citations

Life Sciences, Genetics, Molecular Genetics +16

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Sanna Gudmundsson, Maria Wilbe, Beata Filipek‐Górniok et al. · Scientific Reports · 2019 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Novel association of neurofibromatosis type 1‐causing mutations in families with neurofibromatosis‐noonan syndrome

Sara Ekvall, Kerstin Sjörs, Anders Jonzon et al. · American Journal of Medical Genetics Part A · 2013 · 40 citations

Life Sciences, Genetics, Molecular Genetics +13

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in <i>NF1</i>

AM Nyström, Sara Ekvall, Judith Allanson et al. · Clinical Genetics · 2009 · 39 citations

Medicine, Genetics, Molecular Genetics +15