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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2020
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathyGaetano Terrone, Michele Pinelli, Pia Bernardo, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|December 8, 2006
Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?Ennio Del Giudice, Maria Cristina Bianchi, Michela Tosetti, et al.
Clinical Dysmorphology|October 1, 2011
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ringDaniela Melis, Rita Genesio, Ennio Del Giudice, et al.
European Journal of Medical Genetics|August 7, 2010
An emerging phenotype of proximal 11q deletionsDaniela Melis, Rita Genesio, Mariarosaria Cozzolino, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Clinical description of a patient carrying the smallest reported deletion involving 10p14 regionDaniela Melis, Rita Genesio, Pasquale Boemio, et al.
American Journal of Medical Genetics. Part A|June 9, 2005
Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1Luigi Titomanlio, Nicola Brunetti Pierri, Alfonso Romano, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2017
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright ObjectsGaetano Terrone, Giuseppina Vitiello, Rita Genesio, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyEnnio Del Giudice, Marina Macca, Floriana Imperati, et al.
European Journal of Medical Genetics|June 5, 2012
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patientsGaetano Terrone, Alessandra D'Amico, Floriana Imperati, et al.
European Journal of Human Genetics : EJHG|June 2, 2019
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorderGerarda Cappuccio, Sergio Attanasio, Marianna Alagia, et al.
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