Hugo Hernán Abarca-Barriga

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

Silke B. Lohan, Malte Spielmann, Sandra C. Doelken et al. · Clinical Genetics · 2014 · 64 citations · Full text

A novel <i>ASPH</i> variant extends the phenotype of Shawaf‐Traboulsi syndrome

Hugo Hernán Abarca-Barriga, Nathaly Caballero, Milana Trubnykova et al. · American Journal of Medical Genetics Part A · 2018 · 23 citations

Knowledge level of medical students and physicians about rare diseases in Lima, Peru

Andréa Flores, Sarah Burgos, Hugo Hernán Abarca-Barriga · Intractable & Rare Diseases Research · 2022 · 18 citations · Full text

Disease Management, Poor Knowledge Level, Medical Decision Making +17