Savina Dipresa

Sperm Count and Hypogonadism as Markers of General Male Health

Alberto Ferlin, Andrea Garolla, Marco Ghezzi et al. · European Urology Focus · 2019 · 98 citations

Medicine, Endocrinology, Urology +14

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

Emmanouil Athanasakis, Danilo Licastro, Flavio Faletra et al. · American Journal of Medical Genetics Part A · 2013 · 47 citations

Life Sciences, Genetics, Molecular Genetics +17

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

Moza Khalifa Alkowari, Giorgia Girotto, Khalid Abdulhadi et al. · International Journal of Audiology · 2011 · 30 citations

Life Sciences, Genetics, Molecular Genetics +12

CTNND2 deletion and intellectual disability

Chiara Belcaro, Savina Dipresa, Giovanna Morini et al. · Gene · 2015 · 29 citations

Medicine, Neurobiology, Neuroscience +14

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Sara Nuovo, Alessia Micalizzi, Romina Romaniello et al. · Journal of Medical Genetics · 2021 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17