Search research articles
Contact Us
Filters
Showing results (161-170 of 395) with videos related to
Page
of 40
Sort By:
Biochimica Et Biophysica Acta
|
December 30, 2008
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import
Uwe Ahting, Thomas Floss, Nikolas Uez, et al.
Annals of Neurology
|
January 27, 2006
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
Monika B Hartig, Konstanze Hörtnagel, Barbara Garavaglia, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Johannes Koch, Peter Freisinger, René G Feichtinger, et al.
Molecular Genetics and Metabolism
|
August 12, 2023
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
Amelie T van der Ven, Alfredo Cabrera-Orefice, Isabell Wente, et al.
Journal of Inherited Metabolic Disease
|
August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
Tobias B Haack, Christine Makowski, Yoshiaki Yao, et al.
Journal of Inherited Metabolic Disease
|
May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
Tobias B Haack, Boris Rolinski, Birgit Haberberger, et al.
Genome Medicine
|
November 7, 2022
Network reconstruction for trans acting genetic loci using multi-omics data and prior information
Johann S Hawe, Ashis Saha, Melanie Waldenberger, et al.
Brain : a Journal of Neurology
|
April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloglu, Beril Talim, et al.
European Journal of Preventive Cardiology
|
July 9, 2025
Clinical scores fail to sufficiently identify children with Familial Hypercholesterolemia
Raphael S Schmieder, Johannes Krefting, Sara Ates, et al.
Parkinsonism & Related Disorders
|
March 20, 2022
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
Barbara Garavaglia, Sadeq Vallian, Luigi M Romito, et al.
Page
of 40
Search research articles
Search
Showing results (161-170 of 395) with videos related to
Sort By:
Page
of 40
Biochimica Et Biophysica Acta
|
December 30, 2008
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import
Uwe Ahting, Thomas Floss, Nikolas Uez, et al.
Annals of Neurology
|
January 27, 2006
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
Monika B Hartig, Konstanze Hörtnagel, Barbara Garavaglia, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Johannes Koch, Peter Freisinger, René G Feichtinger, et al.
Molecular Genetics and Metabolism
|
August 12, 2023
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
Amelie T van der Ven, Alfredo Cabrera-Orefice, Isabell Wente, et al.
Journal of Inherited Metabolic Disease
|
August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
Tobias B Haack, Christine Makowski, Yoshiaki Yao, et al.
Journal of Inherited Metabolic Disease
|
May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
Tobias B Haack, Boris Rolinski, Birgit Haberberger, et al.
Genome Medicine
|
November 7, 2022
Network reconstruction for trans acting genetic loci using multi-omics data and prior information
Johann S Hawe, Ashis Saha, Melanie Waldenberger, et al.
Brain : a Journal of Neurology
|
April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloglu, Beril Talim, et al.
European Journal of Preventive Cardiology
|
July 9, 2025
Clinical scores fail to sufficiently identify children with Familial Hypercholesterolemia
Raphael S Schmieder, Johannes Krefting, Sara Ates, et al.
Parkinsonism & Related Disorders
|
March 20, 2022
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
Barbara Garavaglia, Sadeq Vallian, Luigi M Romito, et al.
Page
of 40