Enrique Galán

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 169 citations

Life Sciences, Genetics, Molecular Genetics +13

<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

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Julián Nevado, Sixto García‐Miñáur, María Palomares‐Bralo et al. · Frontiers in Genetics · 2022 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Ivon Cuscó, Miguel Del Campo, Mireia Vilardell et al. · BMC Medical Genetics · 2008 · 40 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