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J McKinlay

Showing results (101-110 of 112) with videos related to

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Microarrays (Basel, Switzerland)|September 8, 2016
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating AtaxiaSarah L Nickerson, Renate Marquis-Nicholson, Karen Claxton, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Molecular Syndromology|July 22, 2010
Periventricular heterotopia in common microdeletion syndromesM van Kogelenberg, S Ghedia, G McGillivray, et al.
Molecular Genetics & Genomic Medicine|October 23, 2018
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathyR J McKinlay Gardner, Ian G Crozier, Alex L Binfield, et al.
Human Molecular Genetics|September 20, 2008
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20Melanie A Knight, Dena Hernandez, Scott J Diede, et al.
ACS Nano|August 6, 2024
Discovery of a Peptoid-Based Nanoparticle Platform for Therapeutic mRNA Delivery via Diverse Library Clustering and Structural ParametrizationElizabeth R Webster, Nicole E Peck, Juan Diego Echeverri, et al.
Molecular Therapy. Nucleic Acids|June 9, 2025
Nanoparticle-formulated mRNA encoding engineered multivalent SIRPα-Fc fusion proteins shows robust anti-cancer activity in preclinical modelsShruti Lal, Adrienne Sallets, Srinivasa R Bandi, et al.
American Journal of Human Genetics|March 29, 2023
Trio RNA sequencing in a cohort of medically complex childrenAshish R Deshwar, Kyoko E Yuki, Huayun Hou, et al.
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Plos Genetics|June 26, 2007
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansJoyce van de Leemput, Jayanth Chandran, Melanie A Knight, et al.
Pageof 12

Showing results (101-110 of 112) with videos related to

Sort By:
Pageof 12
Microarrays (Basel, Switzerland)|September 8, 2016
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating AtaxiaSarah L Nickerson, Renate Marquis-Nicholson, Karen Claxton, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Molecular Syndromology|July 22, 2010
Periventricular heterotopia in common microdeletion syndromesM van Kogelenberg, S Ghedia, G McGillivray, et al.
Molecular Genetics & Genomic Medicine|October 23, 2018
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathyR J McKinlay Gardner, Ian G Crozier, Alex L Binfield, et al.
Human Molecular Genetics|September 20, 2008
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20Melanie A Knight, Dena Hernandez, Scott J Diede, et al.
ACS Nano|August 6, 2024
Discovery of a Peptoid-Based Nanoparticle Platform for Therapeutic mRNA Delivery via Diverse Library Clustering and Structural ParametrizationElizabeth R Webster, Nicole E Peck, Juan Diego Echeverri, et al.
Molecular Therapy. Nucleic Acids|June 9, 2025
Nanoparticle-formulated mRNA encoding engineered multivalent SIRPα-Fc fusion proteins shows robust anti-cancer activity in preclinical modelsShruti Lal, Adrienne Sallets, Srinivasa R Bandi, et al.
American Journal of Human Genetics|March 29, 2023
Trio RNA sequencing in a cohort of medically complex childrenAshish R Deshwar, Kyoko E Yuki, Huayun Hou, et al.
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Plos Genetics|June 26, 2007
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansJoyce van de Leemput, Jayanth Chandran, Melanie A Knight, et al.
Pageof 12