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Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.Genome Research|June 2, 2026
Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohortsYuChung Lin, Christoph Patrick Beier, Zuzana Sobiskova, et al.Neurobiology of Disease|January 25, 2020
Distal motor neuropathy associated with novel EMILIN1 mutationMichele Iacomino, Roberto Doliana, Maria Marchese, et al.Orphanet Journal of Rare Diseases|March 22, 2023
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disordersCostanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, et al.Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.Nature Genetics|June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark I Rees, Kirsten Harvey, Brian R Pearce, et al.Journal of Neurology|January 10, 2013
PRRT2-related disorders: further PKD and ICCA cases and review of the literatureFelicitas Becker, Julian Schubert, Pasquale Striano, et al.Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 3, 2024
Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experienceAlessandro Orsini, Andrea Santangelo, Giorgio Costagliola, et al.Brain : a Journal of Neurology|July 2, 2011
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathologyClaudia B Catarino, Joan Y W Liu, Ioannis Liagkouras, et al.Pageof 77