Browse Items (3 total)
- Tags: Boltshauser E
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Tags: 2007, Andria G, Backlog, Boltshauser E, Bowsher D, Chromosome Mapping, Chromosomes, Clinical Genetics, Codon, Congenital/genetics, Cox J, Dimon JH, DNA Mutational Analysis, Donaldson G, Dube MP, Duff A, Female, Founder Effect, Frameshift Mutation, Fraser R, Genetics, Goldberg YP, Green R, Grinspan GA, Haplotypes, Hayden MR, Hossain S, Human, Humans, Ives E, Journal Article, Kerdraon J, MacDonald ML, MacFarlane J, Male, Mattice M, Mutation, Nonsense, Pain Insensitivity, Pair 2/genetics, Pape T, Payne B, Pedigree, Pimstone SN, Population, Radomski C, Samuels ME, Sequence Deletion, Sherrington R, Sibley BG, Sodium Channels/genetics, Thompson J, Toscano E, Young C, Younghusband HB
Follow-up in children with Joubert syndrome
Tags: 1997, Adolescent, Adult, Ataxia/diagnosis/genetics/physiopathology, Backlog, Boltshauser E, Cerebellum/abnormalities, Child, Cross-sectional Studies, Developmental Disabilities/diagnosis/genetics/physiopathology, Disease Progression, Disease Specific, Facies, Female, Follow-up Studies, Humans, Infant, Journal Article, Kidney Diseases/complications, Landau K, Male, Mental Retardation/complications, Mesencephalon/abnormalities, Muscle Hypotonia/diagnosis/genetics/physiopathology, Neuropediatrics, Newborn, Ocular Motility Disorders/complications, Preschool, Respiration Disorders/complications, Retrospective Studies, Schmid M, Steinlin M, Survivors/classification, Syndrome
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Tags: 2006, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Annals Of Neurology, Backlog, Barth PG, Blood Chemical Analysis, Boltshauser E, Bone and Bones/anatomy & histology/pathology, Brain/anatomy & histology/pathology, Child, Cohort Studies, Dekker C, Denis S, Duran M, Enoyl-CoA Hydratase/deficiency, Ferdinandusse S, Fibroblasts/cytology/metabolism, Gartner J, Humans, Inborn Errors, Infant, Isomerases/deficiency, Journal Article, Kidney/anatomy & histology/pathology, Life Expectancy, Lipid Metabolism, Liver/anatomy & histology/pathology, Longitudinal Studies, Macaya A, Magnetic Resonance Imaging, Majoie CB, Mooyer PA, Multienzyme Complexes/deficiency, Peroxisomal Disorders/classification/pathology/physiopathology, Poll-The BT, Preschool, Questionnaires, Soorani-Lunsing RJ, Wanders RJ