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Manir Ali

Showing results (41-50 of 80) with videos related to

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Molecular Vision|July 29, 2010
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaManir Ali, Beatriz Buentello-Volante, Martin McKibbin, et al.
European Journal of Medical Genetics|November 27, 2018
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing lossAhmed H Al-Amri, Abeer Al Saegh, Watfa Al-Mamari, et al.
Human Mutation|April 5, 2013
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence dataIan M Carr, Joanne Morgan, Christopher Watson, et al.
Arthritis Research & Therapy|December 17, 2005
Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3BAnn W Morgan, Jennifer H Barrett, Bridget Griffiths, et al.
American Journal of Human Genetics|September 2, 2017
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Pageof 8

Showing results (41-50 of 80) with videos related to

Sort By:
Pageof 8
Molecular Vision|July 29, 2010
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaManir Ali, Beatriz Buentello-Volante, Martin McKibbin, et al.
European Journal of Medical Genetics|November 27, 2018
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing lossAhmed H Al-Amri, Abeer Al Saegh, Watfa Al-Mamari, et al.
Human Mutation|April 5, 2013
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence dataIan M Carr, Joanne Morgan, Christopher Watson, et al.
Arthritis Research & Therapy|December 17, 2005
Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3BAnn W Morgan, Jennifer H Barrett, Bridget Griffiths, et al.
American Journal of Human Genetics|September 2, 2017
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Pageof 8