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Taila Hartley

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American Journal of Physiology. Endocrinology and Metabolism|September 25, 2008
Emerging roles for the ubiquitin-proteasome system and autophagy in pancreatic beta-cellsTaila Hartley, John Brumell, Allen Volchuk
BMC Cell Biology|July 28, 2010
Endoplasmic reticulum stress response in an INS-1 pancreatic beta-cell line with inducible expression of a folding-deficient proinsulinTaila Hartley, Madura Siva, Elida Lai, et al.
American Journal of Human Genetics|September 18, 2018
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide VariantsNajmeh Alirezaie, Kristin D Kernohan, Taila Hartley, et al.
Current Neurology and Neuroscience Reports|August 21, 2015
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation SequencingJodi Warman Chardon, Chandree Beaulieu, Taila Hartley, et al.
Genes|May 28, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic EpilepsiesHeather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypesVanda McNiven, Yoko A Ito, Taila Hartley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Fragile X testing as a second-tier testTaila Hartley, Ryan Potter, Lauren Badalato, et al.
Annual Review of Genomics and Human Genetics|April 15, 2020
New Diagnostic Approaches for Undiagnosed Rare Genetic DiseasesTaila Hartley, Gabrielle Lemire, Kristin D Kernohan, et al.
American Journal of Medical Genetics. Part A|May 24, 2022
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndromeStella K MacDonald, Aren E Marshall, Gabrielle Lemire, et al.
BMJ Open|October 10, 2022
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluationRobin Z Hayeems, Francois Bernier, Kym M Boycott, et al.
Pageof 9

Showing results (1-10 of 86) with videos related to

Sort By:
Pageof 9
American Journal of Physiology. Endocrinology and Metabolism|September 25, 2008
Emerging roles for the ubiquitin-proteasome system and autophagy in pancreatic beta-cellsTaila Hartley, John Brumell, Allen Volchuk
BMC Cell Biology|July 28, 2010
Endoplasmic reticulum stress response in an INS-1 pancreatic beta-cell line with inducible expression of a folding-deficient proinsulinTaila Hartley, Madura Siva, Elida Lai, et al.
American Journal of Human Genetics|September 18, 2018
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide VariantsNajmeh Alirezaie, Kristin D Kernohan, Taila Hartley, et al.
Current Neurology and Neuroscience Reports|August 21, 2015
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation SequencingJodi Warman Chardon, Chandree Beaulieu, Taila Hartley, et al.
Genes|May 28, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic EpilepsiesHeather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypesVanda McNiven, Yoko A Ito, Taila Hartley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Fragile X testing as a second-tier testTaila Hartley, Ryan Potter, Lauren Badalato, et al.
Annual Review of Genomics and Human Genetics|April 15, 2020
New Diagnostic Approaches for Undiagnosed Rare Genetic DiseasesTaila Hartley, Gabrielle Lemire, Kristin D Kernohan, et al.
American Journal of Medical Genetics. Part A|May 24, 2022
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndromeStella K MacDonald, Aren E Marshall, Gabrielle Lemire, et al.
BMJ Open|October 10, 2022
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluationRobin Z Hayeems, Francois Bernier, Kym M Boycott, et al.
Pageof 9