Showing results (21-30 of 278) with videos related to

Sort By:
Pageof 28
International Journal of Ophthalmology|December 28, 2018
Long term follow-up of a family with GUCY2D dominant cone dystrophyGeorgios Tsokolas, Hussein Almuhtaseb, Helen Griffiths, et al.
BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5-/- 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.
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.
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.
Briefings in Bioinformatics|January 16, 2014
The genomic and functional characteristics of disease genesAndrew Collins
Molecular Biotechnology|October 9, 2008
Allelic association: linkage disequilibrium structure and gene mappingAndrew Collins
The American Journal of Hospice & Palliative Care|July 17, 2018
"It's very humbling": The Effect Experienced by Those Who Facilitate a Legacy Project Session Within Palliative CareAndrew Collins
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.
Clinical & Translational Immunology|October 7, 2017
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohortWilliam Rae, Daniel Ward, Christopher J Mattocks, et al.
Pageof 28