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Mariya Moosajee

Showing results (101-110 of 176) with videos related to

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European Journal of Human Genetics : EJHG|August 22, 2013
Clinical utility gene card for: choroideremiaMariya Moosajee, Simon C Ramsden, Graeme C M Black, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 25, 2025
Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoidsPhilippa Harding, Nicholas Owen, Jonathan Eintracht, et al.
International Journal of Molecular Sciences|March 6, 2021
<i>EPHA2</i> Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated FamiliesPhilippa Harding, Maria Toms, Elena Schiff, et al.
Metabolomics : Official Journal of the Metabolomic Society|April 17, 2026
Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathiesAna Catalina Rodriguez-Martinez, Neelima Nair, Jane Skinner, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene cardCynthia Yu-Wai-Man, Gavin Arno, John Brookes, et al.
Experimental Eye Research|October 25, 2019
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafishMaria Toms, Adam M Dubis, Wei Sing Lim, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|February 10, 2018
Analysis of hedgehog signaling in periocular sebaceous carcinomaJohn C Bladen, Mariya Moosajee, Dhani Tracey-White, et al.
International Journal of Molecular Sciences|January 27, 2021
Novel Biallelic Variants and Phenotypic Features in Patients with <i>SLC38A8</i>-Related Foveal HypoplasiaElena R Schiff, Vijay K Tailor, Hwei Wuen Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2022
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysisNicholas Owen, Maria Toms, Rodrigo M Young, et al.
International Journal of Molecular Sciences|April 23, 2022
Investigating Biomarkers for <i>USH2A</i> Retinopathy Using Multimodal Retinal ImagingJasdeep S Gill, Vasileios Theofylaktopoulos, Andreas Mitsios, et al.
Pageof 18

Showing results (101-110 of 176) with videos related to

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Pageof 18
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical utility gene card for: choroideremiaMariya Moosajee, Simon C Ramsden, Graeme C M Black, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 25, 2025
Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoidsPhilippa Harding, Nicholas Owen, Jonathan Eintracht, et al.
International Journal of Molecular Sciences|March 6, 2021
<i>EPHA2</i> Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated FamiliesPhilippa Harding, Maria Toms, Elena Schiff, et al.
Metabolomics : Official Journal of the Metabolomic Society|April 17, 2026
Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathiesAna Catalina Rodriguez-Martinez, Neelima Nair, Jane Skinner, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene cardCynthia Yu-Wai-Man, Gavin Arno, John Brookes, et al.
Experimental Eye Research|October 25, 2019
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafishMaria Toms, Adam M Dubis, Wei Sing Lim, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|February 10, 2018
Analysis of hedgehog signaling in periocular sebaceous carcinomaJohn C Bladen, Mariya Moosajee, Dhani Tracey-White, et al.
International Journal of Molecular Sciences|January 27, 2021
Novel Biallelic Variants and Phenotypic Features in Patients with <i>SLC38A8</i>-Related Foveal HypoplasiaElena R Schiff, Vijay K Tailor, Hwei Wuen Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2022
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysisNicholas Owen, Maria Toms, Rodrigo M Young, et al.
International Journal of Molecular Sciences|April 23, 2022
Investigating Biomarkers for <i>USH2A</i> Retinopathy Using Multimodal Retinal ImagingJasdeep S Gill, Vasileios Theofylaktopoulos, Andreas Mitsios, et al.
Pageof 18