Juan López Siles

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Jia‐Chi Wang, Leslie Ross, Loretta W Mahon et al. · European Journal of Human Genetics · 2014 · 78 citations

Life Sciences, Genetics, Molecular Genetics +14

Simpson–<scp>G</scp>olabi–<scp>B</scp>ehmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the <scp><i>GPC</i></scp><i>3</i> Gene

María Elena Mateos, Katrin Beyer, Eduardo López‐Laso et al. · American Journal of Medical Genetics Part A · 2013 · 24 citations

Life Sciences, Genetics, Oncology +13

Neurofibromatosis type I: mutation spectrum of <i>NF1</i> in spanish patients

Carmen Palma Milla, José Miguel Lezana Rosales, Javier López Montiel et al. · Annals of Human Genetics · 2018 · 16 citations

Life Sciences, Genetics, Molecular Genetics +16

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease

Mária Ondrejkovičová, Sylvia Dražilová, Monika Drakulová et al. · BMC Gastroenterology · 2020 · 11 citations · Full text

Life Sciences, Genetics, Neurology +15