Teresa Vendrell

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

Laura Audí, Mónica Fernández‐Cancio, Antonio Carrascosa et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

Ester Margarit, Anna Soler, Ana Carrió et al. · Journal of Medical Genetics · 1998 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

R. Mondéjar, Francisco Solano, R Mellado Rubio et al. · PLoS ONE · 2014 · 36 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Ivon Cuscó et al. · PLoS ONE · 2012 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17