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A Cousin

Showing results (171-180 of 248) with videos related to

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Muscle & Nerve|November 19, 2016
Early-onset limb-girdle muscular dystrophy-2L in a female athletePatrick R Blackburn, Duygu Selcen, Jessica L Jackson, et al.
Leukemia & Lymphoma|December 10, 2016
Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopeniaJuliana Perez Botero, Dong Chen, Margot A Cousin, et al.
Molecular Pharmacology|August 19, 2007
Myristyl trimethyl ammonium bromide and octadecyl trimethyl ammonium bromide are surface-active small molecule dynamin inhibitors that block endocytosis mediated by dynamin I or dynamin IIAnnie Quan, Andrew B McGeachie, Damien J Keating, et al.
Kidney360|April 4, 2022
Quantitative Alterations in Complement Alternative Pathway and Related Genetic Analysis in Severe Phenotype PreeclampsiaLayan Alrahmani, Maria L Gonzalez Suarez, Margot A Cousin, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
Functional validation reveals the novel missense V419L variant in <i>TGFBR2</i> associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signalingMargot A Cousin, Michael T Zimmermann, Angela J Mathison, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.
Cold Spring Harbor Molecular Case Studies|May 27, 2018
Co-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?Katarzyna Polonis, Patrick R Blackburn, Raul A Urrutia, et al.
Journal of Clinical Immunology|March 28, 2022
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical ExemplarAgnes Donko, Douglas B Kuhns, Margot A Cousin, et al.
Clinical Case Reports|September 21, 2016
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinicNicole J Boczek, Ashley N Sigafoos, Michael T Zimmermann, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2010
Regulation of synaptic vesicle recycling by complex formation between intersectin 1 and the clathrin adaptor complex AP2Arndt Pechstein, Jelena Bacetic, Ardeschir Vahedi-Faridi, et al.
Pageof 25

Showing results (171-180 of 248) with videos related to

Sort By:
Pageof 25
Muscle & Nerve|November 19, 2016
Early-onset limb-girdle muscular dystrophy-2L in a female athletePatrick R Blackburn, Duygu Selcen, Jessica L Jackson, et al.
Leukemia & Lymphoma|December 10, 2016
Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopeniaJuliana Perez Botero, Dong Chen, Margot A Cousin, et al.
Molecular Pharmacology|August 19, 2007
Myristyl trimethyl ammonium bromide and octadecyl trimethyl ammonium bromide are surface-active small molecule dynamin inhibitors that block endocytosis mediated by dynamin I or dynamin IIAnnie Quan, Andrew B McGeachie, Damien J Keating, et al.
Kidney360|April 4, 2022
Quantitative Alterations in Complement Alternative Pathway and Related Genetic Analysis in Severe Phenotype PreeclampsiaLayan Alrahmani, Maria L Gonzalez Suarez, Margot A Cousin, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
Functional validation reveals the novel missense V419L variant in <i>TGFBR2</i> associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signalingMargot A Cousin, Michael T Zimmermann, Angela J Mathison, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.
Cold Spring Harbor Molecular Case Studies|May 27, 2018
Co-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?Katarzyna Polonis, Patrick R Blackburn, Raul A Urrutia, et al.
Journal of Clinical Immunology|March 28, 2022
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical ExemplarAgnes Donko, Douglas B Kuhns, Margot A Cousin, et al.
Clinical Case Reports|September 21, 2016
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinicNicole J Boczek, Ashley N Sigafoos, Michael T Zimmermann, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2010
Regulation of synaptic vesicle recycling by complex formation between intersectin 1 and the clathrin adaptor complex AP2Arndt Pechstein, Jelena Bacetic, Ardeschir Vahedi-Faridi, et al.
Pageof 25