Lorella G. Caffi
Bergamo, Italy
Last Updated: 09/26/2026
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Found 9 publications
The Conundrum of Cognitive Dysfunction in Children With Portal Hypertension: The Experience of Bergamo, Italy.
Journal: Journal of clinical and experimental hepatology
Published: May 10, 2022
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 25, 2020
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
Journal: American journal of medical genetics. Part A
Published: May 23, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Journal: Epilepsia
Published: November 07, 2017
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.
Journal: American journal of medical genetics. Part A
Published: May 22, 2014
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Journal: Clinical genetics
Published: December 17, 2013
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
Journal: BMC medical genetics
Published: January 03, 2013
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Journal: Epilepsia
Published: September 06, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026