Alessandra Murgia

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Stephanie Fehr, Meredith Wilson, Jenny Downs et al. · European Journal of Human Genetics · 2012 · 314 citations

Medicine, Neurology, Neuroscience +7

<i>Cx26</i> deafness: mutation analysis and clinical variability

Alessandra Murgia, Eva Orzan, Roberta Polli et al. · Journal of Medical Genetics · 1999 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson et al. · Journal of Neurodevelopmental Disorders · 2014 · 114 citations · Full text

Life Sciences, Genetics, Human Genetics +6

Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region

Giorgio Perilongo, Carla Carollo, Leonardo Salviati et al. · Cancer · 1997 · 96 citations

Medicine, Pediatrics, Radiology +17