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Rita Grasso
Observed name:
R Grasso
Observed institution:
IRCCS Eugenio Medea
OpenAlex ID:
A5038589851
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
2011
·
Maria Clara Bonaglia
, Roberto Giorda
, et al.
·
PLoS Genetics
·
230
PDF
Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients
2006
·
Maria Francesca Bedeschi
, Maria Clara Bonaglia
, et al.
·
Pediatric Neurology
·
176
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype
2008
·
Maria Clara Bonaglia
, Roberto Ciccone
, et al.
·
European Journal of Human Genetics
·
150
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
2008
·
B W M van Bon
, D A Koolen
, et al.
·
Journal of Medical Genetics
·
98
Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
2009
·
Roberto Giorda
, M. Clara Bonaglia
, et al.
·
The American Journal of Human Genetics
·
78
PDF
20‐Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb
2002
·
Maria Clara Bonaglia
, Roberto Giorda
, et al.
·
American Journal of Medical Genetics
·
62
Prevalence of ADHD in a sample of Italian students: A population-based study
2013
·
Rio Bianchini
, Valentina Postorino
, et al.
·
Research in Developmental Disabilities
·
53
PDF
Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
2009
·
Roberto Giorda
, M. Clara Bonaglia
, et al.
·
The American Journal of Human Genetics
·
41
PDF
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
2010
·
Veronica Parri
, Eleni Katzaki
, et al.
·
European Journal of Human Genetics
·
35
PDF
Novel splice‐site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
2010
·
A Tonelli
, R Romaniello
, et al.
·
Clinical Genetics
·
34
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
2007
·
Eleni Katzaki
, Chiara Pescucci
, et al.
·
Journal of Human Genetics
·
30
Seizures and EEG patterns in Pallister–Killian syndrome: 13 New Italian patients
2012
·
Lucio Giordano
, Maurizio Viri
, et al.
·
European Journal of Paediatric Neurology
·
15
Subtelomeric trisomy 21q: A new benign chromosomal variant
2006
·
Maria Clara Bonaglia
, Susan Marelli
, et al.
·
European Journal of Medical Genetics
·
9
Peripheral Markers of the γ-Aminobutyric Acid (GABA)ergic System in Angelman's Syndrome
2003
·
Renato Borgatti
, Paulo Piccinelli
, et al.
·
Journal of Child Neurology
·
7
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
2008
·
Eleni Katzaki
, Chiara Pescucci
, et al.
·
Journal of Human Genetics
·
1
PDF
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Works count:
15
Citation count:
1,019
H-index:
12
I10-index:
12
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