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Nutrients|December 11, 2019
Health-Related Quality of Life and Home Enteral Nutrition in Children with Neurological Impairment: Report from a Multicenter SurveyValeria Dipasquale, Marco Ventimiglia, Simone Maria Calogero Gramaglia, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patientsMaria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, et al.
American Journal of Medical Genetics. Part A|January 24, 2013
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotypeChiara Castronovo, Daniela Rusconi, Milena Crippa, et al.
Molecular Cytogenetics|August 9, 2016
14q32.3-qter trisomic segment: a case report and literature reviewNicoletta Villa, Agnese Scatigno, Serena Redaelli, et al.
European Journal of Medical Genetics|January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotypeCristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Nutrients|July 2, 2021
Caregiver Social Status and Health-Related Quality of Life in Neurologically Impaired Children on Home Enteral NutritionValeria Dipasquale, Marco Ventimiglia, Simone Maria Calogero Gramaglia, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromesEnrico Alfei, Federico Raviglione, Silvana Franceschetti, et al.
Ophthalmology|October 4, 2011
Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1Francesco Viola, Edoardo Villani, Federica Natacci, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotypeAngela Peron, Luigina Spaccini, Joy Norris, et al.
European Journal of Medical Genetics|July 27, 2013
Audiological follow-up of 24 patients affected by Williams syndromeStefania Barozzi, Daniela Soi, Emanuela Spreafico, et al.
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