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American Journal of Medical Genetics. Part A|October 24, 2020
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profileViola Alesi, Sara Loddo, Valeria Orlando, et al.American Journal of Medical Genetics. Part A|April 23, 2020
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defectAnwar Baban, Nicole Olivini, Nicoletta Cantarutti, et al.Neuropathology and Applied Neurobiology|March 18, 2022
Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangementSabrina Rossi, Sabina Barresi, Giovanna Stefania Colafati, et al.Journal of Medical Genetics|January 5, 2021
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyrationMaria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.Brain Pathology (Zurich, Switzerland)|December 30, 2020
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal disseminationSabrina Rossi, Sabina Barresi, Isabella Giovannoni, et al.Brain Sciences|November 14, 2020
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral ProfilingMaria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, et al.American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Small 4p16.3 deletions: Three additional patients and review of the literatureLaura Bernardini, Francesca C Radio, Fabio Acquaviva, et al.Reproductive Sciences (Thousand Oaks, Calif.)|January 7, 2021
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound AnomaliesValeria Orlando, Viola Alesi, Gianluca Di Giacomo, et al.American Journal of Medical Genetics. Part A|March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patientsMaria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.Pageof 7