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Showing results (181-190 of 192) with videos related to

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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 2, 2012
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatmentPierre Cochat, Sally-Anne Hulton, Cécile Acquaviva, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|April 11, 2012
Direct histological processing of EUS biopsies enables rapid molecular biomarker analysis for interventional pancreatic cancer trialsRebecca J Brais, Susan E Davies, Maria O'Donovan, et al.
Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderLloyd B Williams, Asif Javed, Amin Sabri, et al.
Pageof 20

Showing results (181-190 of 192) with videos related to

Sort By:
Pageof 20
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 2, 2012
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatmentPierre Cochat, Sally-Anne Hulton, Cécile Acquaviva, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|April 11, 2012
Direct histological processing of EUS biopsies enables rapid molecular biomarker analysis for interventional pancreatic cancer trialsRebecca J Brais, Susan E Davies, Maria O'Donovan, et al.
Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderLloyd B Williams, Asif Javed, Amin Sabri, et al.
Pageof 20