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European Journal of Paediatric Neurology, ISSN 1090-3798, 03/2018, Volume 22, Issue 2, pp. 219 - 220
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2019, Volume 50, Issue 1, pp. 001 - 001
Journal Article
Neuropediatrics, 02/2019, Volume 50, Issue 1, p. 1
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 06/2018, Volume 89, Issue 6, pp. 668 - 670
The classic phenotype of GLUT1DS includes microcephaly, mild to severe developmental delay, infantile-onset drug-resistant epilepsy, and movement disorders,... 
SURGERY | PSYCHIATRY | GLUCOSE-TRANSPORTER-1 DEFICIENCY | CLINICAL NEUROLOGY | Stroke | Medical imaging | Fasting | Intellectual disabilities | Migraine | Epilepsy | Electroencephalography | Microcephaly | Patients | Proteins | Ethics | Genotype & phenotype | Convulsions & seizures | Ataxia | Mutation
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 05/2019, Volume 56, Issue 5, pp. 308 - 316
Background A taxia telangiectasia (A-T) is a neurodegenerative disorder. While patients with classic A-T generally die in their 20s, some patients with variant... 
KINASE-ACTIVITY | MISSENSE | PROTEIN | GENE | SIGNS | GENETICS & HEREDITY
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 1, pp. 47 - 47
Journal Article
Heart, ISSN 1355-6037, 06/2003, Volume 89, Issue 6, p. 668
Journal Article
Neuropediatrics, ISSN 0174-304X, 2017, Volume 48, Issue 5, pp. 327 - 328
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2019, Volume 50, Issue 2, pp. 089 - 095
Abstract Aim  Sjögren–Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism.... 
Original Article | participation | Sjögren-Larsson syndrome | quality of life | feeding and swallowing problems | PERFORMANCE | Sjogren-Larsson syndrome | PEDIATRICS | HEALTH | CLINICAL NEUROLOGY | CHILDREN
Journal Article
Journal of neurology, neurosurgery, and psychiatry, ISSN 0022-3050, 2017
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 9, pp. 1055 - 1063
Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or... 
pediatric neurology | Prospective Clinical Utility Study | whole-exome sequencing | diagnostic yield | health-care resource use | DIAGNOSIS | RARE DISEASES | VARIANTS | CONSENSUS | DISORDERS | INTELLECTUAL DISABILITY | INCIDENTAL FINDINGS | COST | GENETICS & HEREDITY | MUTATIONS | PARTICIPANTS | Neurology | Pediatrics | Original
Journal Article
Lancet Oncology, ISSN 1470-2045, 2012, Volume 13, Issue 3, pp. 256 - 264
Journal Article
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