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American Journal of Medical Genetics. Part A|September 22, 2018
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndromeAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.American Journal of Medical Genetics. Part A|July 20, 2024
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansionCristina Chelleri, Noemi Brolatti, Patrizia De Marco, et al.Journal of Neurology|February 24, 2019
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical developmentSara Uccella, Andrea Accogli, Domenico Tortora, et al.European Journal of Medical Genetics|June 29, 2011
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-ocPatrizia De Marco, Alessandro Raso, Silvana Beri, et al.Frontiers in Pediatrics|January 31, 2022
Diagnostic Approach to Macrocephaly in ChildrenAndrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, et al.Neurology. Clinical Practice|April 25, 2024
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case ReportMartina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, et al.Molecular Cytogenetics|May 27, 2014
Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cordSamantha Mascelli, Mariasavina Severino, Alessandro Raso, et al.Frontiers in Pediatrics|January 5, 2024
Case Report: Novel biallelic moderately damaging variants in <i>RTTN</i> in a patient with cerebellar dysplasiaFerruccio Romano, Elisabetta Amadori, Francesca Madia, et al.Frontiers in Genetics|April 22, 2025
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care centerFerruccio Romano, Patrizia De Marco, Giulia Amico, et al.Neuro-Oncology|April 14, 2011
High levels of PROM1 (CD133) transcript are a potential predictor of poor prognosis in medulloblastomaAlessandro Raso, Samantha Mascelli, Roberto Biassoni, et al.Pageof 18