Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseClinical and molecular phenotype of Aicardi-Goutieres syndromeMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureNeurocranial morphology and growth in Williams syndrome.[Neurofibromatosis type 2 and auditory brainstem implantation].Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.Understanding the experience of myotonic dystrophy. Mixed method study.Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies.Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.Parents' attitudes toward genetic research in autism spectrum disorder.Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence.Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation.Efficacy and safety of the dopaminergic stabilizer Pridopidine (ACR16) in patients with Huntington's disease.Children with autism spectrum disorders - the importance of medical investigations.Effect of epilepsy on autism symptoms in Angelman syndrome.Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.Dental characteristics in Williams syndrome: a clinical and radiographic evaluation.Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.[«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?].[Complex craniofacial synostoses]Clinical and genetic characteristics of late-onset Huntington's disease[A. Heiberg and colleagues reply]
P50
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P50
description
Noors arts
@nl
Norwegian physician and professor
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dochtúir agus ollamh Ioruach
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dokter asal Norwegia
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norwegischer Arzt und Professor
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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Arvid Heiberg
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0000 0000 3822 7201
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no00051051
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1937-12-20T00:00:00Z
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lccn-no00051051