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European Journal of Medical Genetics|May 9, 2012
Neurological findings in incontinentia pigmenti; a reviewMarije E C Meuwissen, Grazia M S ManciniEuropean Journal of Medical Genetics|August 1, 2017
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosisFleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, et al.Neurobiology of Disease|September 10, 2017
Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorderCallista B Harper, Grazia M S Mancini, Marjon van Slegtenhorst, et al.Neurology|September 6, 2019
Subcortical heterotopic gray matter brain malformations: Classification study of 107 individualsRenske Oegema, A James Barkovich, Grazia M S Mancini, et al.Journal of Pediatric Surgery|December 13, 2006
A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitisGabrielle H van Ramshorst, Maarten H Lequin, Grazia M S Mancini, et al.Brain & Development|July 2, 2015
The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorderSanem Yilmaz, Sarenur Gokben, Gul Serdaroglu, et al.European Journal of Human Genetics : EJHG|February 4, 2026
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literatureFatimah Albuainain, Myrrhe Venema, Rachel Schot, et al.European Journal of Medical Genetics|April 2, 2013
Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletionWillem M A Verhoeven, Jos I M Egger, Luc Goffin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalusIllja J Diets, Trine Prescott, Neena L Champaigne, et al.Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 24, 2010
Combined cardiological and neurological abnormalities due to filamin A gene mutationMarie Claire Y de Wit, Irenaeus F M de Coo, Maarten H Lequin, et al.Pageof 12