Maria Esperanza Teresa‐Rodrigo

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti, Maria Esperanza Teresa‐Rodrigo, Jelena Pozojevic et al. · Human Genetics · 2017 · 85 citations

Life Sciences, Genetics, Molecular Genetics +8

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

Beatriz Puisac, Mónica Ramos, María Arnedo et al. · Molecular Biology Reports · 2011 · 32 citations

Life Sciences, Biochemistry, Molecular Biology +11

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Mónica Ramos, Sebastián Menao, María Arnedo et al. · European Journal of Medical Genetics · 2013 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Maria Esperanza Teresa‐Rodrigo, Juliane Eckhold, Beatriz Puisac et al. · International Journal of Molecular Sciences · 2014 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14