Raquel Flores

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Mónica Bayés, Luis F. Magano, Nuria Fernández Rivera et al. · The American Journal of Human Genetics · 2003 · 341 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Partial 7q11.23 deletions further implicate <i>GTF2I</i> and <i>GTF2IRD1</i> as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

Anna Antonell, Miguel Del Campo, Luis F. Magano et al. · Journal of Medical Genetics · 2009 · 156 citations

DNA methylation abnormalities in congenital heart disease

Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs et al. · Epigenetics · 2015 · 137 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +19

Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

Miguel Del Campo, Anna Antonell, Luis F. Magano et al. · The American Journal of Human Genetics · 2006 · 117 citations · Full text

Hypertension, Genetic Disorder, Genetics +8

Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency

Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí et al. · EMBO Molecular Medicine · 2014 · 115 citations · Full text