Anna Norberg

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23

Maria Liljeholm, Andrew F. Irvine, Ann-Louise Vikberg et al. · Blood · 2013 · 113 citations

Life Sciences, Genetics, Molecular Genetics +12

Genetic screening in sudden cardiac death in the young can save future lives

Eva‐Lena Stattin, Ida Maria Westin, Kristina Cederquist et al. · International Journal of Legal Medicine · 2015 · 68 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF

Elin Larsson, Regina Kuma, Anna Norberg et al. · Neurobiology of Disease · 2008 · 44 citations · Full text

Medicine, Neurobiology, Neuroscience +7

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

Eva‐Lena Stattin, Ida Maria Boström, Annika Winbo et al. · BMC Cardiovascular Disorders · 2012 · 37 citations · Full text

Life Sciences, Cardiology, Genetics +15

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

Sofie Bergstrand, Stefanie Böhm, Helena Malmgren et al. · Cell Death and Disease · 2020 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17