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European Journal of Human Genetics : EJHG
|
December 17, 2015
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
Marie Collet, Zahra Assouline, Damien Bonnet, et al.
Cardiovascular Diabetology
|
January 18, 2025
Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study
Liye Lai, Dave Laurence Juntilla, Monica Del C Gomez-Alonso, et al.
Communications Biology
|
June 3, 2021
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
Alexandra Stavsky, Ohad Stoler, Marko Kostic, et al.
Journal of Inherited Metabolic Disease
|
March 18, 2015
Spectrum of combined respiratory chain defects
Johannes A Mayr, Tobias B Haack, Peter Freisinger, et al.
Communications Biology
|
June 15, 2021
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
Alexandra Stavsky, Ohad Stoler, Marko Kostic, et al.
Neurology. Genetics
|
December 17, 2025
Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing
Kohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.
Orphanet Journal of Rare Diseases
|
October 31, 2019
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, et al.
Human Mutation
|
December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
Cardiovascular Diabetology
|
June 14, 2025
Correction: Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study
Liye Lai, Dave Laurence Juntilla, Monica Del C Gomez-Alonso, et al.
Breast Cancer Research : BCR
|
August 9, 2018
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Judith Penkert, Gunnar Schmidt, Winfried Hofmann, et al.
Page
of 40
Search research articles
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Showing results (131-140 of 395) with videos related to
Sort By:
Page
of 40
European Journal of Human Genetics : EJHG
|
December 17, 2015
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
Marie Collet, Zahra Assouline, Damien Bonnet, et al.
Cardiovascular Diabetology
|
January 18, 2025
Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study
Liye Lai, Dave Laurence Juntilla, Monica Del C Gomez-Alonso, et al.
Communications Biology
|
June 3, 2021
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
Alexandra Stavsky, Ohad Stoler, Marko Kostic, et al.
Journal of Inherited Metabolic Disease
|
March 18, 2015
Spectrum of combined respiratory chain defects
Johannes A Mayr, Tobias B Haack, Peter Freisinger, et al.
Communications Biology
|
June 15, 2021
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
Alexandra Stavsky, Ohad Stoler, Marko Kostic, et al.
Neurology. Genetics
|
December 17, 2025
Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing
Kohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.
Orphanet Journal of Rare Diseases
|
October 31, 2019
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, et al.
Human Mutation
|
December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
Cardiovascular Diabetology
|
June 14, 2025
Correction: Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study
Liye Lai, Dave Laurence Juntilla, Monica Del C Gomez-Alonso, et al.
Breast Cancer Research : BCR
|
August 9, 2018
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Judith Penkert, Gunnar Schmidt, Winfried Hofmann, et al.
Page
of 40