L. Suárez Garzón

Functional analysis of new variants at the Low Density Lipoprotein Receptor associated with familial hypercholesterolemia

Carmen Rodríguez‐Jiménez, Olga Pernía, José María Mostaza et al. · Human Mutation · 2019 · 18 citations

New Variants, Genetics, Genetic Epidemiology +18

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in <i>SLC25A24</i>

María Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Jaime Cruz‐Rojo et al. · American Journal of Medical Genetics Part A · 2018 · 16 citations

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

Juan Francisco Quesada‐Espinosa, L. Suárez Garzón, José Miguel Lezana Rosales et al. · Neurogenetics · 2021 · 15 citations

Partial Deletion, Pathology, Gynecology +3

TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome

Christian M. Moya, Miguel A. Zaballos, L. Suárez Garzón et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 11 citations · Full text

Clinical and Molecular Description of 16 Families With Heterozygous <i>IHH</i> Variants

Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 11 citations · Full text