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Biochimica Et Biophysica Acta
|
December 24, 2008
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome
Karin Naess, Christoph Freyer, Helene Bruhn, et al.
Journal of Inherited Metabolic Disease
|
December 7, 2021
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study
Antri Savvidou, Liz Ivarsson, Karin Naess, et al.
JIMD Reports
|
February 23, 2013
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome
Karin Naess, Michela Barbaro, Helene Bruhn, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
June 11, 2023
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases
Direnis Erdinc, Bertil Macao, Sebastian Valenzuela, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 16, 2016
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy
Sofia Ygberg, Karin Naess, Mats Eriksson, et al.
Human Mutation
|
April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Helene Bruhn, Karin Naess, Sofia Ygberg, et al.
Biomedicines
|
December 23, 2022
A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy
Raquel Vaz, Josephine Wincent, Najla Elfissi, et al.
Annals of Neurology
|
July 27, 2005
Secondary metabolic effects in complex I deficiency
Nayla Esteitie, Reetta Hinttala, Rolf Wibom, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2013
Partial tetrasomy 14 associated with multiple malformations
Johanna Winberg, Kristina Lagerstedt Robinson, Karin Naess, et al.
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of 6
Search research articles
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Showing results (11-20 of 55) with videos related to
Sort By:
Page
of 6
Biochimica Et Biophysica Acta
|
December 24, 2008
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome
Karin Naess, Christoph Freyer, Helene Bruhn, et al.
Journal of Inherited Metabolic Disease
|
December 7, 2021
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study
Antri Savvidou, Liz Ivarsson, Karin Naess, et al.
JIMD Reports
|
February 23, 2013
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome
Karin Naess, Michela Barbaro, Helene Bruhn, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
June 11, 2023
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases
Direnis Erdinc, Bertil Macao, Sebastian Valenzuela, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 16, 2016
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy
Sofia Ygberg, Karin Naess, Mats Eriksson, et al.
Human Mutation
|
April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Helene Bruhn, Karin Naess, Sofia Ygberg, et al.
Biomedicines
|
December 23, 2022
A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy
Raquel Vaz, Josephine Wincent, Najla Elfissi, et al.
Annals of Neurology
|
July 27, 2005
Secondary metabolic effects in complex I deficiency
Nayla Esteitie, Reetta Hinttala, Rolf Wibom, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2013
Partial tetrasomy 14 associated with multiple malformations
Johanna Winberg, Kristina Lagerstedt Robinson, Karin Naess, et al.
Page
of 6