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European Journal of Pediatrics|January 27, 2017
Developmental trends of communicative skills in children with chromosome 14 aberrationsLaura Zampini, Paola Zanchi, Berardo Rinaldi, et al.
Genes|February 25, 2022
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related DisordersBerardo Rinaldi, Roberta Villa, Alessandra Sironi, et al.
Minerva Pediatrica|February 18, 2017
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot studyClaudio Lisi, Serena Monteleone, Carmine Tinelli, et al.
European Journal of Medical Genetics|July 23, 2019
BCAP31-related syndrome: The first de novo reportBerardo Rinaldi, Evelien Van Hoof, Anniek Corveleyn, et al.
Orthodontics & Craniofacial Research|April 6, 2026
Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified GuidelinesMarco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, et al.
Genes|June 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP GeneGiulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 21, 2015
Paediatric clinically isolated syndromes: report of seven cases, differential diagnosis and literature reviewChiara Trabatti, Thomas Foiadelli, Maria Valentina Spartà, et al.
Current Opinion in Ophthalmology|August 17, 2023
Ocular features in Williams-Beuren syndrome: a review of the literatureMarco Nassisi, Claudia Mainetti, Andrea Aretti, et al.
Italian Journal of Pediatrics|February 16, 2021
Incidental finding of APC deletion in a child: double trouble or double chance? - a case reportErica Rosina, Berardo Rinaldi, Rosamaria Silipigni, et al.
The Journal of Pathology|June 14, 2017
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic typeEdoardo Errichiello, Noor Mustafa, Annalisa Vetro, et al.
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