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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A

Journal of hepatology, 2023-10, Vol.79 (4), p.945-954

2023

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The distribution of DNA damage is defined by region-specific susceptibility to DNA damage formation rather than repair differences

DNA repair, 2014-06, Vol.18, p.44-51

2014

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T-cell Receptor Excision Circles in Newborns with Heart Defects

Pediatric cardiology, 2020-04, Vol.41 (4), p.809-815

2020

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Addressing RNA integrity to determine the impact of mitochondrial DNA mutations on brain mitochondrial function with age

PloS one, 2014-05, Vol.9 (5), p.e96940

2014

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Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS

International journal of neonatal screening, 2023-12, Vol.9 (4), p.67

2023

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Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis

Metabolism, clinical and experimental, 2014-08, Vol.63 (8), p.1063-1070

2014

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Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells

The FEBS journal, 2009-05, Vol.276 (10), p.2811-2821

2009

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Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation

Molecular genetics and metabolism, 2010-08, Vol.100 (4), p.324-332

2010

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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

International journal of neonatal screening, 2020

2020

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Addressing RNA Integrity to Determine the Impact of Mitochondrial DNA Mutations on Brain Mitochondrial Function with Age: e96940

PloS one, 2014-05, Vol.9 (5)

2014

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Randomized Study of Long-term (15-17 Years) Outcome After Microfracture Versus Mosaicplasty in Knee Articular Cartilage Defects

The American journal of sports medicine, 2018-03, Vol.46 (4), p.826-831

2018

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Results at 10–14 years after microfracture treatment of articular cartilage defects in the knee

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2016-05, Vol.24 (5), p.1587-1593

2016

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A patient perspective on non-attendance for psychotherapy in psychiatric outpatient care for patients with affective disorders

Nordic psychology, 2023-10, Vol.ahead-of-print (ahead-of-print), p.1-15

2023

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Results at 10 to 14years after osteochondral autografting (mosaicplasty) in articular cartilage defects in the knee

The knee, 2013-08, Vol.20 (4), p.287-290

2013

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Results at 10 to 14 years after osteochondral autografting (mosaicplasty) in articular cartilage defects in the knee

The knee, 2013-08, Vol.20 (4), p.287-290

2013

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Microfracture treatment of single or multiple articular cartilage defects of the knee: a 5-year median follow-up of 110 patients

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2010-04, Vol.18 (4), p.504-508

2010

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Osteochondral autografting (mosaicplasty) in articular cartilage defects in the knee: Results at 5 to 9 years

The knee, 2010-01, Vol.17 (1), p.84-87

2010

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Abstract 17161: High-sensitivity Troponin T Predicts Mortality Independently Of Ventricular Dysfunction And Pulmonary Hypertension In Stable Chronic Obstructive Pulmonary Disease

Circulation (New York, N.Y.), 2019-11, Vol.140 (Suppl_1 Suppl 1), p.A17161-A17161

2019

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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

The distribution of DNA damage is defined by region-specific susceptibility to DNA damage formation rather than repair differences

T-cell Receptor Excision Circles in Newborns with Heart Defects

Addressing RNA integrity to determine the impact of mitochondrial DNA mutations on brain mitochondrial function with age

Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS

Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

Addressing RNA Integrity to Determine the Impact of Mitochondrial DNA Mutations on Brain Mitochondrial Function with Age: e96940

Randomized Study of Long-term (15-17 Years) Outcome After Microfracture Versus Mosaicplasty in Knee Articular Cartilage Defects

Results at 10–14 years after microfracture treatment of articular cartilage defects in the knee

A patient perspective on non-attendance for psychotherapy in psychiatric outpatient care for patients with affective disorders

Results at 10 to 14years after osteochondral autografting (mosaicplasty) in articular cartilage defects in the knee

Results at 10 to 14 years after osteochondral autografting (mosaicplasty) in articular cartilage defects in the knee

Microfracture treatment of single or multiple articular cartilage defects of the knee: a 5-year median follow-up of 110 patients

Osteochondral autografting (mosaicplasty) in articular cartilage defects in the knee: Results at 5 to 9 years

Abstract 17161: High-sensitivity Troponin T Predicts Mortality Independently Of Ventricular Dysfunction And Pulmonary Hypertension In Stable Chronic Obstructive Pulmonary Disease

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