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Clinical Genetics|December 6, 2012
Syndromic non-compaction of the left ventricle: associated chromosomal anomaliesM C Digilio, L Bernardini, M G Gagliardi, et al.
Schizophrenia Research|May 26, 2012
Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: a comparison of prodromal psychotic symptoms and general functioningMarco Armando, Paolo Girardi, Stefano Vicari, et al.
The Pediatric Infectious Disease Journal|March 29, 2006
Safety and immunogenicity of a measles, mumps, rubella and varicella vaccine given with combined Haemophilus influenzae type b conjugate/hepatitis B vaccines and combined diphtheria-tetanus-acellular pertussis vaccinesHenry Shinefield, Steve Black, Marci Thear, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regionsSouad Bensaid, Malika Bendahmane, Sara Loddo, et al.
The Pediatric Infectious Disease Journal|August 12, 2005
Evaluation of a quadrivalent measles, mumps, rubella and varicella vaccine in healthy childrenHenry Shinefield, Steve Black, Laura Digilio, et al.
Journal of Cellular Physiology|October 27, 2018
Meldonium improves Huntington's disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expressionFrancesca Di Cristo, Mauro Finicelli, Filomena Anna Digilio, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndromeViola Alesi, Maria L Dentici, Fabrizia Restaldi, et al.
Journal of Cardiovascular Development and Disease|November 25, 2021
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature ReviewValentina Lodato, Valeria Orlando, Viola Alesi, et al.
American Journal of Medical Genetics. Part A|April 25, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the LiteratureVittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, et al.
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