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American Journal of Medical Genetics. Part A
|
January 7, 2021
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome
Francesca Dassie, Riccardina Lorusso, Silvia Benavides-Varela, et al.
Cell Death & Disease
|
May 2, 2021
HIF1α-dependent induction of the mitochondrial chaperone TRAP1 regulates bioenergetic adaptations to hypoxia
Claudio Laquatra, Carlos Sanchez-Martin, Alberto Dinarello, et al.
Biomolecules
|
November 27, 2025
<i>RYR1</i>-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling
Daniele Sabbatini, Domenico Gorgoglione, Giovanni Minervini, et al.
Circulation. Genomic and Precision Medicine
|
February 1, 2020
Novel Missense Variant in <i>MYL2</i> Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology
Marzia De Bortoli, Riccardo Vio, Cristina Basso, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
November 14, 2018
High-Conductance Channel Formation in Yeast Mitochondria is Mediated by F-ATP Synthase e and g Subunits
Michela Carraro, Vanessa Checchetto, Geppo Sartori, et al.
Human Mutation
|
March 25, 2014
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment
Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, et al.
Neurology
|
September 28, 2018
The clinical spectrum of <i>CASQ1</i>-related myopathy
Claudio Semplicini, Cinzia Bertolin, Luca Bello, et al.
The EMBO Journal
|
October 3, 2025
Mapping cryptic phosphorylation sites in the human proteome
Dino Gasparotto, Annarita Zanon, Valerio Bonaldo, et al.
American Journal of Human Genetics
|
June 6, 2015
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy
Emanuela Dazzo, Manuela Fanciulli, Elena Serioli, et al.
Circulation. Genomic and Precision Medicine
|
October 26, 2018
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy
Marzia De Bortoli, Alex V Postma, Giulia Poloni, et al.
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Search research articles
Search
Showing results (61-70 of 80) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
January 7, 2021
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome
Francesca Dassie, Riccardina Lorusso, Silvia Benavides-Varela, et al.
Cell Death & Disease
|
May 2, 2021
HIF1α-dependent induction of the mitochondrial chaperone TRAP1 regulates bioenergetic adaptations to hypoxia
Claudio Laquatra, Carlos Sanchez-Martin, Alberto Dinarello, et al.
Biomolecules
|
November 27, 2025
<i>RYR1</i>-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling
Daniele Sabbatini, Domenico Gorgoglione, Giovanni Minervini, et al.
Circulation. Genomic and Precision Medicine
|
February 1, 2020
Novel Missense Variant in <i>MYL2</i> Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology
Marzia De Bortoli, Riccardo Vio, Cristina Basso, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
November 14, 2018
High-Conductance Channel Formation in Yeast Mitochondria is Mediated by F-ATP Synthase e and g Subunits
Michela Carraro, Vanessa Checchetto, Geppo Sartori, et al.
Human Mutation
|
March 25, 2014
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment
Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, et al.
Neurology
|
September 28, 2018
The clinical spectrum of <i>CASQ1</i>-related myopathy
Claudio Semplicini, Cinzia Bertolin, Luca Bello, et al.
The EMBO Journal
|
October 3, 2025
Mapping cryptic phosphorylation sites in the human proteome
Dino Gasparotto, Annarita Zanon, Valerio Bonaldo, et al.
American Journal of Human Genetics
|
June 6, 2015
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy
Emanuela Dazzo, Manuela Fanciulli, Elena Serioli, et al.
Circulation. Genomic and Precision Medicine
|
October 26, 2018
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy
Marzia De Bortoli, Alex V Postma, Giulia Poloni, et al.
Page
of 8