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1دورية أكاديمية
المؤلفون: Øystein K. Jørstad, Stine Skaar, Harald Strand, Oddveig Røsby, Ruth Therese Brokstad, Pål A. Rønning
المصدر: Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 513-517 (2024)
مصطلحات موضوعية: leber hereditary optic neuropathy, m.3866t>c, idebenone, case report, Ophthalmology, RE1-994
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Helle Høyer, Øyvind L. Busk, Q. Ying. Esbensen, Oddveig Røsby, Hilde T. Hilmarsen, Michael B. Russell, Tuula A. Nyman, Geir J. Braathen, Hilde L. Nilsen
المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-15 (2022)
مصطلحات موضوعية: CMT2, Peripheral neuropathy, AARS1, Mitochondrial dysfunction, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2377
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3دورية أكاديمية
المؤلفون: Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C. Glover
المصدر: Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Dystonia-deafness syndrome, ACTB p.Arg183Trp, Pallidal deep brain stimulation, Striatal neuronal dysfunction, Dopaminergic dysfunction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4
المؤلفون: Asbjørg Stray-Pedersen, Greg Eigner Jablonski, James P. Connelly, Joel C. Glover, Ane Konglund, Nadja Kvernmo, Bård Nedregaard, Inger Marie Skogseid, Oddveig Røsby
المصدر: Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)مصطلحات موضوعية: 0301 basic medicine, Pathology, Neurology, Deep Brain Stimulation, Dopamine, Case Report, Gene mutation, Loss of heterozygosity, 0302 clinical medicine, Deaf-Blind Disorders, Pallidal deep brain stimulation, Exome sequencing, Dystonia, Putamen, Dopaminergic, Brain, Magnetic Resonance Imaging, Treatment Outcome, Female, Striatal neuronal dysfunction, medicine.drug, Adult, medicine.medical_specialty, Heterozygote, Cognitive Neuroscience, Globus Pallidus, Pathology and Forensic Medicine, lcsh:RC321-571, 03 medical and health sciences, Young Adult, Intellectual Disability, medicine, otorhinolaryngologic diseases, Humans, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, business.industry, medicine.disease, Actins, Dopaminergic dysfunction, Optic Atrophy, 030104 developmental biology, Positron-Emission Tomography, ACTB p.Arg183Trp, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Dystonia-deafness syndrome, 030217 neurology & neurosurgery
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5
المؤلفون: Andrea Legati, Oddveig Røsby, Giovanni Coppola
المصدر: Journal of Neurology. 263:594-596
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Tomography Scanners, X-Ray Computed, DNA Mutational Analysis, Norwegian, Gene mutation, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, X ray computed, Humans, Medicine, Age of Onset, Family Health, Genetics, Family health, Brain Diseases, Norway, Sodium-Phosphate Cotransporter Proteins, Type III, business.industry, Calcinosis, Middle Aged, medicine.disease, Magnetic Resonance Imaging, language.human_language, 030104 developmental biology, Neurology, Mutation, language, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Calcification
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6
المؤلفون: Truls Oppedal, Isabel Filges, Irene Hoesli, Peter Meyer, Ying Sheng, Dag E. Undlien, Petter Strømme, Stephanie Meier, Max Schubach, Kristin Brandal, Peter Miny, Kaja Kristine Selmer, Trine Rygvold Waage, Tjaart A. P. de Beer, Oddveig Røsby, Elisabeth Bruder, Sylvia Hoeller, Sevgi Tercanli, Sven M. Schulzke
المصدر: Human mutation. 37(7)
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Microcephaly, Chromosomal Proteins, Non-Histone, DNA Mutational Analysis, Intestinal Atresia, Genes, Recessive, medicine.disease_cause, Compound heterozygosity, Ciliopathies, Young Adult, 03 medical and health sciences, medicine, Genetics, Humans, Eye Abnormalities, Genetic Association Studies, Genetics (clinical), Mutation, biology, Siblings, Microfilament Proteins, CENPF, Facies, Heterozygote advantage, medicine.disease, Phenotype, Pedigree, Ciliopathy, 030104 developmental biology, biology.protein, Female, Follow-Up Studies
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7
المؤلفون: Olaug K. Rødningen, Oddveig Røsby, Ann-Sofie Eriksson, Trine Prescott
المصدر: European Journal of Medical Genetics. 51:646-650
مصطلحات موضوعية: Male, Microcephaly, Pediatrics, medicine.medical_specialty, Chromosomes, Human, Pair 22, Epilepsy, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Encopresis, 22q11.2 distal deletion syndrome, business.industry, Infant, Newborn, Syndrome, General Medicine, medicine.disease, Hypoplasia, Developmental disorder, Phenotype, Speech delay, Female, Sensorineural hearing loss, Chromosome Deletion, medicine.symptom, business
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8
المؤلفون: Trond P. Leren, Serena Tonstad, Olaug K. Rødningen, Leiv Ose, Kari Solberg, Kåre Berg, Oddveig Røsby
المصدر: Clinical Genetics. 42:224-228
مصطلحات موضوعية: Genetic Markers, Male, Linkage disequilibrium, Molecular Sequence Data, Locus (genetics), Familial hypercholesterolemia, Biology, Polymerase Chain Reaction, Hyperlipoproteinemia Type II, Exon, Gene Frequency, Genetics, medicine, Humans, Point Mutation, Genetics (clinical), Polymorphism, Genetic, Base Sequence, Point mutation, Haplotype, Single-strand conformation polymorphism, Exons, Sequence Analysis, DNA, medicine.disease, Molecular biology, Haplotypes, Receptors, LDL, LDL receptor, Female
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9
المؤلفون: Marit Bjørnvold, Kaja Kristine Selmer, Hrisimir Kostov, Caroline Lund, Oddveig Røsby, Mia Tuft
المصدر: Pediatric neurology. 52(2)
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Corpus callosum, Aicardi syndrome, Epilepsy, Young Adult, Neurodevelopmental disorder, Developmental Neuroscience, medicine, Humans, Child, business.industry, Norway, Medical record, Infant, Newborn, Infant, medicine.disease, Hypsarrhythmia, Aicardi Syndrome, Neurology, Agenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Agenesis of Corpus Callosum, business, Rare disease
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10
المصدر: Epilepsybehavior : EB. 33
مصطلحات موضوعية: Adult, Male, medicine.disease_cause, Frameshift mutation, Behavioral Neuroscience, Epilepsy, symbols.namesake, Gene duplication, medicine, Humans, Sanger sequencing, Genetics, Mutation, business.industry, Lennox Gastaut Syndrome, Brain, Electroencephalography, medicine.disease, DNA-Binding Proteins, Neurology, CHD2, symbols, Etiology, Cancer research, Female, Neurology (clinical), business, Lennox–Gastaut syndrome