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The Journal of Clinical Investigation|September 4, 2003
Sequence-specific modification of genomic DNA by small DNA fragmentsDieter C Gruenert, Emanuela Bruscia, Giuseppe Novelli, et al.
Trends in Microbiology|May 30, 2021
Cross-correlation of virome-bacteriome-host-metabolome to study respiratory healthAndrea Iorio, Manuele Biazzo, Simone Gardini, et al.
Epilepsy & Behavior : E&B|May 14, 2020
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic conditionMarina Trivisano, Manuel Rivera, Alessandra Terracciano, et al.
Brain Sciences|November 10, 2019
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndromePaolo Alfieri, Francesco Demaria, Serena Licchelli, et al.
Data in Brief|March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study resultsGiulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
Annals of Human Genetics|August 21, 2009
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia familiesLuciana Chessa, Maria Piane, Monia Magliozzi, et al.
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.
European Journal of Human Genetics : EJHG|April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian familyAntonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traitsCarmela Fusco, Lucia Micale, Bartolomeo Augello, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletionIrene Bottillo, Isabella Torrente, Valentina Lanari, et al.
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