M.L. Martínez‐Fernández

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 230 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A small and active ring x chromosome in a female with features of Kabuki syndrome

Laura Rodríguez, Dan Diego‐Álvarez, Isabel Lorda‐Sánchez et al. · American Journal of Medical Genetics Part A · 2008 · 62 citations

Life Sciences, Genetics, Molecular Genetics +17

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

Laura Rodríguez, Marcella Zollino, Salvador Climent et al. · American Journal of Medical Genetics Part A · 2005 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Alicia Delicado, Elena Mansilla, María Torres et al. · The American Journal of Human Genetics · 2011 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Elyes Chabchoub, Enrique Galán, Elena Mansilla et al. · Journal of Medical Genetics · 2006 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17