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J Pengelly

Showing results (21-30 of 47) with videos related to

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BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5<sup>-/-</sup> cell model of retinitis pigmentosaSuly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, et al.
Frontiers in Pediatrics|June 8, 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic ParadigmEleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, et al.
BMC Bioinformatics|May 18, 2019
GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing dataE Mossotto, J J Ashton, L O'Gorman, et al.
Human Genetics|October 23, 2020
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathiesLiliya Nazlamova, N Simon Thomas, Man-Kim Cheung, et al.
Heredity|July 7, 2016
Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibriumR J Pengelly, A A Gheyas, R Kuo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
Angewandte Chemie (International Ed. in English)|November 1, 2016
Structural Snapshots for Mechanism-Based Inactivation of a Glycoside Hydrolase by Cyclopropyl CarbasugarsChristopher Adamson, Robert J Pengelly, Saeideh Shamsi Kazem Abadi, et al.
Scientific Reports|May 16, 2015
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1RNicola Foulds, Reuben J Pengelly, Simon R Hammans, et al.
Scientific Reports|July 27, 2016
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypesReuben J Pengelly, Liliana Arias, Julio Martínez, et al.
Clinical & Translational Immunology|October 7, 2017
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohortWilliam Rae, Daniel Ward, Christopher J Mattocks, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5<sup>-/-</sup> cell model of retinitis pigmentosaSuly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, et al.
Frontiers in Pediatrics|June 8, 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic ParadigmEleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, et al.
BMC Bioinformatics|May 18, 2019
GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing dataE Mossotto, J J Ashton, L O'Gorman, et al.
Human Genetics|October 23, 2020
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathiesLiliya Nazlamova, N Simon Thomas, Man-Kim Cheung, et al.
Heredity|July 7, 2016
Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibriumR J Pengelly, A A Gheyas, R Kuo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
Angewandte Chemie (International Ed. in English)|November 1, 2016
Structural Snapshots for Mechanism-Based Inactivation of a Glycoside Hydrolase by Cyclopropyl CarbasugarsChristopher Adamson, Robert J Pengelly, Saeideh Shamsi Kazem Abadi, et al.
Scientific Reports|May 16, 2015
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1RNicola Foulds, Reuben J Pengelly, Simon R Hammans, et al.
Scientific Reports|July 27, 2016
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypesReuben J Pengelly, Liliana Arias, Julio Martínez, et al.
Clinical & Translational Immunology|October 7, 2017
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohortWilliam Rae, Daniel Ward, Christopher J Mattocks, et al.
Pageof 5