Elisabet Ars

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

Elisabet Ars · Human Molecular Genetics · 2000 · 352 citations · Full text

Engineering, Mrna Splicing, Genetics +19

Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas

Eduard Serra, Susana Puig, David Otero et al. · The American Journal of Human Genetics · 1997 · 243 citations · Full text

Neuro-oncology, Neuromas, Fibrosis +8

Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

Sheila Santín, Gemma Bullich, Bárbara Tazón‐Vega et al. · Clinical Journal of the American Society of Nephrology · 2011 · 237 citations · Full text

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 205 citations · Full text

Genetics, Renal Pathology, Steroid-resistant Nephrotic Syndrome +17

Recurrent mutations in the <i>NF1</i> gene are common among neurofibromatosis type 1 patients

Elisabet Ars · Journal of Medical Genetics · 2003 · 177 citations · Full text