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Manir Ali

Showing results (31-40 of 80) with videos related to

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American Journal of Medical Genetics. Part A|May 6, 2016
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani familyAhmed Al-Amri, Abeer Al Saegh, Watfa Al-Mamari, et al.
Plos One|August 23, 2012
Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeIan M Carr, Christine P Diggle, Kamron Khan, et al.
JAMA Ophthalmology|December 27, 2014
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosaElia Shevach, Manir Ali, Liliana Mizrahi-Meissonnier, et al.
Molecular Diagnosis & Therapy|June 7, 2023
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow CellsSamar Yahya, Christopher M Watson, Ian Carr, et al.
Cornea|December 20, 2013
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndromeSalina Siddiqui, Juan Carlos Zenteno, Aine Rice, et al.
Molecular Vision|November 7, 2013
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1Musallam Al-Araimi, Bishwanath Pal, James A Poulter, et al.
Retina (Philadelphia, Pa.)|February 25, 2017
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISMKamron N Khan, Emma C Lord, Gavin Arno, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.
Genes|January 21, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UKBenjamin Mc Clinton, Zelia Corradi, Martin McKibbin, et al.
Pageof 8

Showing results (31-40 of 80) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|May 6, 2016
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani familyAhmed Al-Amri, Abeer Al Saegh, Watfa Al-Mamari, et al.
Plos One|August 23, 2012
Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeIan M Carr, Christine P Diggle, Kamron Khan, et al.
JAMA Ophthalmology|December 27, 2014
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosaElia Shevach, Manir Ali, Liliana Mizrahi-Meissonnier, et al.
Molecular Diagnosis & Therapy|June 7, 2023
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow CellsSamar Yahya, Christopher M Watson, Ian Carr, et al.
Cornea|December 20, 2013
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndromeSalina Siddiqui, Juan Carlos Zenteno, Aine Rice, et al.
Molecular Vision|November 7, 2013
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1Musallam Al-Araimi, Bishwanath Pal, James A Poulter, et al.
Retina (Philadelphia, Pa.)|February 25, 2017
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISMKamron N Khan, Emma C Lord, Gavin Arno, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.
Genes|January 21, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UKBenjamin Mc Clinton, Zelia Corradi, Martin McKibbin, et al.
Pageof 8