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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Clinical genetics, 2013-10, Vol.84 (4), p.388-391

2013

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A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S96-S97

2016

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A new gene (DYX3) for dyslexia is located on chromosome 2

Journal of medical genetics, 1999-09, Vol.36 (9), p.664-669

1999

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P2.17 Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interface

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.665-666

2011

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P.22 - A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S96-S97

2016

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EP.98Next-generation sequencing-based molecular diagnosis of neuromuscular patients: results of three years experience

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S181-S181

2019

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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S51

2018

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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.71Unexpected findings of congenital myasthenic syndromes by NGS testing using an extended gene panel on neuromuscular patients in Norway

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S51-S51

2018

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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1298-1313

2011

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Identification of a New Locus for Autosomal Dominant Non-Syndromic Hearing Impairment (DFNA7) in a Large Norwegian Family

Human molecular genetics, 1996-08, Vol.5 (8), p.1187-1191

1996

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Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

Ophthalmic genetics, 2000-12, Vol.21 (4), p.197-209

2000

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Human cytomegalovirus (HCMV) and hearing impairment: Infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49—Both involved in dominantly inherited, sensorineural, hearing impairment

Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 2008-01, Vol.637 (1), p.56-65

2008

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DFNA7

Advances in oto-rhino-laryngology, 2000, Vol.56, p.97-100

2000

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Homozygosity mapping to the USH2A locus in two isolated populations

Journal of medical genetics, 1999-02, Vol.36 (2), p.144-147

1999

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Two families with phenotypically different hereditary low frequency hearing impairment: longitudinal data and linkage analysis

Scandinavian Audiology, 2001, Vol.30 (4), p.246-254

2001

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Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Human genetics, 2003-08, Vol.113 (3), p.293-295

2003

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Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment

Human genetics, 2000-07, Vol.107 (1), p.7-11

2000

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A new gene for dyslexia (DYX3) is located on chromosome 2. H.A

Genetics in medicine, 1999-01, Vol.1 (2), p.74

1999

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Audiological variation in a family with autosomal dominant non-syndromic hearing impairment linked to the DFNA7 locus - a need for reclassification of deafness

Journal of audiological medicine, 1998-01, Vol.7 (2), p.109-119

1998

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Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

Ophthalmic genetics, 2000-01, Vol.21 (4), p.197-209

2000

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Leder

Studia musicologica Norvegica, 2023-10, Vol.49 (1), p.1-2

Fagerheim, Paal

2023

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Experiencing Nature through Immersive Virtual Environments: Environmental Perceptions, Physical Engagement, and Affective Responses during a Simulated Nature Walk

Frontiers in psychology, 2018-01, Vol.8, p.2321-2321

2018

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Frå norsk eksepsjonalisme til provinsialisering av det norske? Didaktiske mogelegheiter med postkoloniale perspektiv

Nordisk tidsskrift for pedagogikk & kritikk, 2024-03, Vol.10 (3)

Fagerheim Kalsås, Vidar

2024

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Mellom historiske lærdomar og historisk tenking: Undervisningspraksisar kring temaet holocaust blant lærarar i norsk skule

Acta didactica Norden, 2022-12, Vol.16 (3)

Kalsås, Vidar Fagerheim

2022

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Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification

Journal of bone and mineral research, 2013-06, Vol.28 (6), p.1378-1385

2013

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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems

A new gene (DYX3) for dyslexia is located on chromosome 2

P2.17 Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interface

P.22 - A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems

EP.98Next-generation sequencing-based molecular diagnosis of neuromuscular patients: results of three years experience

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.71Unexpected findings of congenital myasthenic syndromes by NGS testing using an extended gene panel on neuromuscular patients in Norway

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Identification of a New Locus for Autosomal Dominant Non-Syndromic Hearing Impairment (DFNA7) in a Large Norwegian Family

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

Human cytomegalovirus (HCMV) and hearing impairment: Infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49—Both involved in dominantly inherited, sensorineural, hearing impairment

DFNA7

Homozygosity mapping to the USH2A locus in two isolated populations

Two families with phenotypically different hereditary low frequency hearing impairment: longitudinal data and linkage analysis

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment

A new gene for dyslexia (DYX3) is located on chromosome 2. H.A

Audiological variation in a family with autosomal dominant non-syndromic hearing impairment linked to the DFNA7 locus - a need for reclassification of deafness

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

Leder

Experiencing Nature through Immersive Virtual Environments: Environmental Perceptions, Physical Engagement, and Affective Responses during a Simulated Nature Walk

Frå norsk eksepsjonalisme til provinsialisering av det norske? Didaktiske mogelegheiter med postkoloniale perspektiv

Mellom historiske lærdomar og historisk tenking: Undervisningspraksisar kring temaet holocaust blant lærarar i norsk skule

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification

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