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BMC Cancer|May 9, 2013
Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneitiesGrazia Tortorelli, Luana Di Murro, Rosaria Barbarino, et al.
Annals of the New York Academy of Sciences|November 15, 2006
Familial nonsyndromic pheochromocytomaGiuseppe Opocher, Francesca Schiavi, Maurizio Iacobone, et al.
Journal of Neurodevelopmental Disorders|August 12, 2014
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmissionCarolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, et al.
Journal of Child Neurology|April 13, 2011
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of lifeStefano Sartori, Roberta Polli, Elisa Bettella, et al.
International Journal of Molecular Sciences|January 25, 2025
Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case StudiesElisa Di Giorgio, Silvia Benavides-Varela, Annamaria Porru, et al.
Intractable & Rare Diseases Research|January 22, 2015
Distribution of AGG interruption patterns within nine world populationsCarolyn M Yrigollen, Stefan Sweha, Blythe Durbin-Johnson, et al.
Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
European Journal of Human Genetics : EJHG|November 26, 2022
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variantsEmanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, et al.
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