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Human Mutation
|
June 1, 2022
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, et al.
Molecular Biology of the Cell
|
February 18, 2003
Pex7p and Pex20p of Neurospora crassa function together in PTS2-dependent protein import into peroxisomes
Martin Sichting, Annette Schell-Steven, Holger Prokisch, et al.
The EMBO Journal
|
December 13, 2005
The Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria
Alexander C Adam, Carsten Bornhövd, Holger Prokisch, et al.
Annals of Neurology
|
December 28, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Sarah L Stenton, Ying Zou, Hua Cheng, et al.
Journal of Inherited Metabolic Disease
|
May 24, 2019
The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics
Sarah L Stenton, Laura S Kremer, Robert Kopajtich, et al.
Deutsches Arzteblatt International
|
June 23, 2021
Mitochondrial Disorders
Thomas Klopstock, Claudia Priglinger, Ali Yilmaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2024
Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort
Giovanna Zorzi, Federica Zibordi, Ugo Sorrentino, et al.
International Review of Neurobiology
|
November 12, 2013
BPAN: the only X-linked dominant NBIA disorder
Tobias B Haack, Penny Hogarth, Allison Gregory, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
November 29, 2015
Analyzing Illumina Gene Expression Microarray Data Obtained From Human Whole Blood Cell and Blood Monocyte Samples
Alexander Teumer, Claudia Schurmann, Arne Schillert, et al.
The Journal of Pathology
|
February 15, 2021
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines
Charlotte L Alston, Sarah L Stenton, Gavin Hudson, et al.
Page
of 40
Search research articles
Search
Showing results (31-40 of 394) with videos related to
Sort By:
Page
of 40
Human Mutation
|
June 1, 2022
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, et al.
Molecular Biology of the Cell
|
February 18, 2003
Pex7p and Pex20p of Neurospora crassa function together in PTS2-dependent protein import into peroxisomes
Martin Sichting, Annette Schell-Steven, Holger Prokisch, et al.
The EMBO Journal
|
December 13, 2005
The Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria
Alexander C Adam, Carsten Bornhövd, Holger Prokisch, et al.
Annals of Neurology
|
December 28, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Sarah L Stenton, Ying Zou, Hua Cheng, et al.
Journal of Inherited Metabolic Disease
|
May 24, 2019
The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics
Sarah L Stenton, Laura S Kremer, Robert Kopajtich, et al.
Deutsches Arzteblatt International
|
June 23, 2021
Mitochondrial Disorders
Thomas Klopstock, Claudia Priglinger, Ali Yilmaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2024
Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort
Giovanna Zorzi, Federica Zibordi, Ugo Sorrentino, et al.
International Review of Neurobiology
|
November 12, 2013
BPAN: the only X-linked dominant NBIA disorder
Tobias B Haack, Penny Hogarth, Allison Gregory, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
November 29, 2015
Analyzing Illumina Gene Expression Microarray Data Obtained From Human Whole Blood Cell and Blood Monocyte Samples
Alexander Teumer, Claudia Schurmann, Arne Schillert, et al.
The Journal of Pathology
|
February 15, 2021
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines
Charlotte L Alston, Sarah L Stenton, Gavin Hudson, et al.
Page
of 40