نتائج البحث - "Clemens Müller-Reible"

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دورية أكاديمية

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

المؤلفون: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Incidence, Neuromuscular disease, Spinal muscular atrophy, Duchenne muscular dystrophy, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1125-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4078961974ba44e2b22cd8c31a59872c

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The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies

المؤلفون: Natalie Pluta, Konstantin Kolokotronis, Gerhard Meng, Clemens Müller-Reible, Simone Rost, Wolfram Kress

المصدر: Neuropediatrics. 48:242-246

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5581c73c374aa816a6d369d042ea2072
https://doi.org/10.1055/s-0037-1602660

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SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder

المساهمون: RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie

المصدر: Journal of Child Psychology and Psychiatry and Allied Disciplines, 58, 7, pp. 798-809
Journal of Child Psychology and Psychiatry and Allied Disciplines, 58, 798-809
Journal of Child Psychology and Psychiatry
Journal of Child Psychology and Psychiatry, 58(7), 798-809. Wiley

مصطلحات موضوعية: 0301 basic medicine, NEUROTRANSMITTER HOMEOSTASIS, Genome-wide association study, Executive Function, 0302 clinical medicine, Neurodevelopmental disorder, Gene Duplication, Germany, single-nucleotide polymorphisms, Developmental and Educational Psychology, Copy-number variation, BRAIN, Child, Genetics, Glucose Transporter Type 3, Norway, IGF-I, Psychiatry and Mental health, duplication, SUSCEPTIBILITY GENE, RARE VARIANTS, Psychology, BEHAVIOR, Adult, Risk, Adolescent, DNA Copy Number Variations, SLC2A3, DEFICIT HYPERACTIVITY DISORDER, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, frontostriatal network, Young Adult, 03 medical and health sciences, WORKING-MEMORY, mental disorders, medicine, Humans, Attention deficit hyperactivity disorder, SNP, GENOME-WIDE ASSOCIATION, energy homeostasis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Working memory, glucose transporter, GLUCOSE-TRANSPORTER EXPRESSION, medicine.disease, 030104 developmental biology, Attention-deficit/hyperactivity disorder, Attention Deficit Disorder with Hyperactivity, Spain, Case-Control Studies, Pediatrics, Perinatology and Child Health, Neurocognitive, 030217 neurology & neurosurgery, Genome-Wide Association Study, copy number variants