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International Journal of Molecular Sciences|December 29, 2017
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of LiteratureFrancesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, et al.
Journal of Medical Genetics|February 4, 2019
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndromeBjørt K Kragesteen, Francesco Brancati, Maria Cristina Digilio, et al.
Clinical Dysmorphology|July 24, 2009
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overviewSofia Douzgou, Rita Mingarelli, Bruno Dallapiccola
Current Opinion in Gastroenterology|August 30, 2019
Potential of multiomics technology in precision medicineLorenza Putignani, Antonio Gasbarrini, Bruno Dallapiccola
European Journal of Human Genetics : EJHG|September 26, 2003
Recurrent triploidy of maternal originFrancesco Brancati, Rita Mingarelli, Bruno Dallapiccola
Orphanet Journal of Rare Diseases|December 14, 2006
KBG syndromeFrancesco Brancati, Anna Sarkozy, Bruno Dallapiccola
Scientific Reports|November 4, 2023
Williams-Beuren syndrome shapes the gut microbiota metaproteomeValeria Marzano, Stefano Levi Mortera, Pamela Vernocchi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
The Clinical Neuropsychologist|July 4, 2024
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature reviewMassimo Apicella, Andrea Battisti, Elisa Pisaneschi, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 6, 2003
Growth and pubertal growth spurt in dysmorphic syndromesMarco Cappa, Carla Bizzarri, Diego Colabianchi, et al.
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