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Manir Ali

Showing results (61-70 of 80) with videos related to

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Investigative Ophthalmology & Visual Science|July 9, 2013
Mutational analysis of MIR184 in sporadic keratoconus and myopiaJudith Lechner, Ha Ae Bae, Jasenka Guduric-Fuchs, et al.
Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Biological Psychiatry|March 1, 2022
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit FliesAhmed H Al-Amri, Paul Armstrong, Mascia Amici, et al.
Pageof 8

Showing results (61-70 of 80) with videos related to

Sort By:
Pageof 8
Investigative Ophthalmology & Visual Science|July 9, 2013
Mutational analysis of MIR184 in sporadic keratoconus and myopiaJudith Lechner, Ha Ae Bae, Jasenka Guduric-Fuchs, et al.
Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Biological Psychiatry|March 1, 2022
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit FliesAhmed H Al-Amri, Paul Armstrong, Mascia Amici, et al.
Pageof 8