Enrico Grosso
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino(IT)Department of Medical Sciences(RU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, RNA Research and Splicing, Prenatal Screening and Diagnostics, Tuberous Sclerosis Complex Research, Genomics and Chromatin Dynamics
Most-Cited Works
- → AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders(2019)242 cited
- → 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene(1994)144 cited
- → Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas(1996)133 cited
- → The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis(2017)122 cited
- → Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)(2017)99 cited
- → Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs(2006)94 cited