Concepedia

Ana Coral Barreda Bonis

AC

Statistics

Publications

6

Citations

232

H-Index

6

Active since

2012

Affiliations

Hospital Universitario La Paz(Current)

Universidad Autónoma de Madrid

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Hospital Universitario Príncipe de Asturias

Ana Coral Barreda Bonis is an author at Hospital Universitario La Paz specializing in genetics, life sciences, and human genetics.

ORCID

Publications per year

2012–2021

6

Publications

6

Heterozygous<i>NPR2</i>Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Alfonso Hisado-Oliva, Ana Isabel Garre-Vazquez, Fabiola Santaolalla-Caballero et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 73 citations · Full text

, , +11

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel <i>SHOX</i> enhancer

Sara Benito‐Sanz, José Luís Royo, Eva Barroso et al. · Journal of Medical Genetics · 2012 · 68 citations

, , +17

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

Sarah M. Leiter, Victoria E R Parker, Alena Welters et al. · European Journal of Endocrinology · 2017 · 38 citations · Full text

, , +16

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona et al. · European Journal of Endocrinology · 2021 · 25 citations · Full text

, , +17

Multiple SLC26A2 mutations occurring in a three-generational family

Ana Coral Barreda Bonis, Jimena Barraza‐García, Manuel Parrón et al. · European Journal of Medical Genetics · 2017 · 14 citations

, , +5

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