Andrea Gazzin

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Federica Maria Valente, Angela Sparago, Andrea Freschi et al. · Genetics in Medicine · 2019 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

Andrea Gazzin, Diana Carli, Fabio Sirchia et al. · American Journal of Medical Genetics Part A · 2019 · 37 citations

Medicine, Oncology, Pediatrics +11

Spatial tuning of electrophysiological responses to multisensory stimuli reveals a primitive coding of the body boundaries in newborns

Irene Ronga, Mattia Galigani, Valentina Bruno et al. · Proceedings of the National Academy of Sciences · 2021 · 35 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

<i>NBAS</i> pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

Diana Carli, Elisa Giorgio, Francesca Pantaleoni et al. · Human Mutation · 2019 · 24 citations · Full text

Life Sciences, Molecular Genetics, Molecular Medicine +16

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)

G.J. Reynolds, Simona Cardaropoli, Diana Carli et al. · European Journal of Human Genetics · 2023 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12