Eirik Frengen

Professor

University of Oslo

Norway

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Articles (9)

Year:

2024

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2024

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2023

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2020

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2020

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2020

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2020

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2020

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2020

Collaborators (7)

Petter Strømme

Consultant in Child Neurology and Professor emeritus, University of Oslo, Norway

Oslo University Hospital

NORWAY

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Ludovic MARTIN

Université Paris-Saclay

FRANCE

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Dulika Sumathipala

Australian National University

AUSTRALIA

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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Kari-Anne Myrum Frikstad

Oslo University Hospital

NORWAY

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Arvind Y.M. Sundaram

University of Oslo

NORWAY

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Soeren Sten Lienkamp

University Medical Center Freiburg

GERMANY

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Eirik Frengen

Research Interests

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Articles (9)

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome

Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme Syndrome

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Collaborators (7)

Petter Strømme

Ludovic MARTIN

Dulika Sumathipala

Paul Kuentz

Kari-Anne Myrum Frikstad

Arvind Y.M. Sundaram

Soeren Sten Lienkamp

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