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Pagnamenta

Showing results (151-160 of 265) with videos related to

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Molecular Autism|August 4, 2010
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestryInês Sousa, Taane G Clark, Richard Holt, et al.
Journal of Crohn'S & Colitis|June 4, 2019
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell TransplantationChrissy Bolton, Nicola Burch, James Morgan, et al.
Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Human Molecular Genetics|May 30, 2015
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 12, 2020
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin ExpressionKreepa G Kooblall, Hannah Boon, Treena Cranston, et al.
European Heart Journal Open|August 2, 2022
Comparative frequency and prognostic impact of myocardial injury in hospitalized patients with COVID-19 and InfluenzaLuigi Biasco, Catherine Klersy, Giulia S Beretta, et al.
Journal of Medical Genetics|February 6, 2021
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutationVassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, et al.
Stroke|January 27, 2025
<i>Ide</i> Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory StudyMarco Foddis, Sonja Blumenau, Susanne Mueller, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 29, 2016
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, et al.
Pageof 27

Showing results (151-160 of 265) with videos related to

Sort By:
Pageof 27
Molecular Autism|August 4, 2010
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestryInês Sousa, Taane G Clark, Richard Holt, et al.
Journal of Crohn'S & Colitis|June 4, 2019
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell TransplantationChrissy Bolton, Nicola Burch, James Morgan, et al.
Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Human Molecular Genetics|May 30, 2015
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 12, 2020
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin ExpressionKreepa G Kooblall, Hannah Boon, Treena Cranston, et al.
European Heart Journal Open|August 2, 2022
Comparative frequency and prognostic impact of myocardial injury in hospitalized patients with COVID-19 and InfluenzaLuigi Biasco, Catherine Klersy, Giulia S Beretta, et al.
Journal of Medical Genetics|February 6, 2021
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutationVassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, et al.
Stroke|January 27, 2025
<i>Ide</i> Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory StudyMarco Foddis, Sonja Blumenau, Susanne Mueller, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 29, 2016
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, et al.
Pageof 27