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Mariya Moosajee

Showing results (151-160 of 176) with videos related to

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The British Journal of Ophthalmology|July 4, 2019
Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in <i>USH2A</i> and <i>MYO7A</i>Ahmed M Hagag, Andreas Mitsios, Jasdeep S Gill, et al.
Clinical Genetics|June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variantsEleanor Hay, Robert H Henderson, Sahar Mansour, et al.
Investigative Ophthalmology & Visual Science|July 1, 2025
A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African AncestryWendy M Wong, Anthony G Robson, Rebecca A Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey studySaskia C Sanderson, Celine Lewis, Melissa Hill, et al.
The British Journal of Ophthalmology|July 24, 2021
Foveal structure and visual function in nanophthalmos and posterior microphthalmosPhilipp L Müller, Tim Treis, Abdulrahman Alsaedi, et al.
JCI Insight|March 23, 2021
REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremiaDulce Lima Cunha, Rose Richardson, Dhani Tracey-White, et al.
Human Molecular Genetics|July 28, 2007
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular colobomaCheryl Y Gregory-Evans, Mariya Moosajee, Matthew D Hodges, et al.
Translational Vision Science & Technology|December 19, 2024
Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual FunctionAna Catalina Rodriguez-Martinez, Vijay K Tailor-Hamblin, Michael D Crossland, et al.
NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Human Molecular Genetics|January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related diseaseMaria Toms, Adam M Dubis, Erik de Vrieze, et al.
Pageof 18

Showing results (151-160 of 176) with videos related to

Sort By:
Pageof 18
The British Journal of Ophthalmology|July 4, 2019
Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in <i>USH2A</i> and <i>MYO7A</i>Ahmed M Hagag, Andreas Mitsios, Jasdeep S Gill, et al.
Clinical Genetics|June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variantsEleanor Hay, Robert H Henderson, Sahar Mansour, et al.
Investigative Ophthalmology & Visual Science|July 1, 2025
A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African AncestryWendy M Wong, Anthony G Robson, Rebecca A Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey studySaskia C Sanderson, Celine Lewis, Melissa Hill, et al.
The British Journal of Ophthalmology|July 24, 2021
Foveal structure and visual function in nanophthalmos and posterior microphthalmosPhilipp L Müller, Tim Treis, Abdulrahman Alsaedi, et al.
JCI Insight|March 23, 2021
REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremiaDulce Lima Cunha, Rose Richardson, Dhani Tracey-White, et al.
Human Molecular Genetics|July 28, 2007
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular colobomaCheryl Y Gregory-Evans, Mariya Moosajee, Matthew D Hodges, et al.
Translational Vision Science & Technology|December 19, 2024
Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual FunctionAna Catalina Rodriguez-Martinez, Vijay K Tailor-Hamblin, Michael D Crossland, et al.
NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Human Molecular Genetics|January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related diseaseMaria Toms, Adam M Dubis, Erik de Vrieze, et al.
Pageof 18