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Janne M. Strand
Observed names:
Janne Maren Strand,
Janne Strand
Institution:
Oslo University Hospital
Observed institutions:
Oslo University Hospital,
University of Oslo
OpenAlex ID:
A5111814100
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
2020
·
Janne Strand
, Kiran Aftab Gul
, et al.
·
Frontiers in Immunology
·
72
PDF
Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells
2009
·
Pia Ø. Osenbroch
, Pia Auk‐Emblem
, et al.
·
FEBS Journal
·
60
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
2020
·
Trine Tangeraas
, Ingjerd Sæves
, et al.
·
International Journal of Neonatal Screening
·
48
PDF
Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis
2014
·
Janne M. Strand
, Ragnhild Skinnes
, et al.
·
Metabolism
·
22
The distribution of DNA damage is defined by region-specific susceptibility to DNA damage formation rather than repair differences
2014
·
Janne M. Strand
, Katja Scheffler
, et al.
·
DNA repair
·
15
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A
2023
·
Runar Almaas
, Monica Atneosen-Åsegg
, et al.
·
Journal of Hepatology
·
12
PDF
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
2010
·
Else Brodtkorb
, Janne Strand
, et al.
·
Molecular Genetics and Metabolism
·
12
T-cell Receptor Excision Circles in Newborns with Heart Defects
2020
·
Kiran A. Gul
, Janne Strand
, et al.
·
Pediatric Cardiology
·
10
PDF
Addressing RNA Integrity to Determine the Impact of Mitochondrial DNA Mutations on Brain Mitochondrial Function with Age
2014
·
Wei Wang
, Katja Scheffler
, et al.
·
PLoS ONE
·
10
PDF
Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS
2023
·
Silje Hogner
, Emma Lundman
, et al.
·
International Journal of Neonatal Screening
·
7
PDF
Unmasking immunodeficiency in sudden infant deaths: no evidence of hidden immune disorders
2026
·
Jintana Bunpan Andersen
, Janne Maren Strand
, et al.
·
Frontiers in Immunology
PDF
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Works count:
11
Citation count:
268
H-index:
9
I10-index:
9
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