Salvatore Savasta

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Lionel Van Maldergem, J. Magre, T. E. Khallouf et al. · Journal of Medical Genetics · 2002 · 247 citations · Full text

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano et al. · The American Journal of Human Genetics · 2006 · 199 citations · Full text

Infantile Encephalopathy, Mitochondrial Biogenesis, Mitochondrial Function +7

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci et al. · European Journal of Human Genetics · 2017 · 75 citations · Full text

Chromatin, Genome Instability, Meier-gorlin Syndrome +11

<i>CDKL5</i> gene‐related epileptic encephalopathy: electroclinical findings in the first year of life

Federico Melani, Davide Mei, Tiziana Pisano et al. · Developmental Medicine & Child Neurology · 2011 · 73 citations