E. Scala
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Cell Adhesion Molecules Research, MicroRNA in disease regulation
Most-Cited Works
- → CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms(2005)237 cited
- → Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)(2008)98 cited
- → Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group(2004)32 cited
- → Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X‐linked microcephalic intellectual deficit(2012)10 cited
- → The Italian XLMR bank: a clinical and molecular database(2006)4 cited
- → Co-sensitizations to gibberellin regulated proteins (GRPs) in Italy: results of a polycentric study(2024)1 cited
- [Clinical and genetic features of the Alport 'syndromes'].(2008)