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Carmel Toomes

Showing results (11-20 of 72) with videos related to

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Disease Models & Mechanisms|June 3, 2015
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathwayZakia A Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, et al.
Molecular Vision|January 23, 2004
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)Carmel Toomes, Louise M Downey, Helen M Bottomley, et al.
Breast Cancer Research and Treatment|August 12, 2009
Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinomaMohamed Kamal, Abeer M Shaaban, Liqun Zhang, et al.
Scientific Reports|April 2, 2019
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5Zakia A Abdelhamed, Dina I Abdelmottaleb, Mohammed E El-Asrag, et al.
American Journal of Ophthalmology|February 20, 2007
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutationsAmy C Cohn, Carmel Toomes, Catherine Potter, et al.
Journal of Medical Genetics|December 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVRDong Sun, Robert H Henderson, Emma Clement, et al.
Molecular Vision|October 11, 2003
Polymorphisms in OPA1 are associated with normal tension glaucomaBrenda L Powell, Carmel Toomes, Shiela Scott, et al.
Clinical & Experimental Ophthalmology|May 12, 2012
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutationsThomas L Edwards, Benjamin O Burt, Graeme C M Black, et al.
Ophthalmology|November 18, 2022
ReplyChris F Inglehearn, Samar Yahya, Claire E L Smith, et al.
Molecular Vision|June 13, 2022
Novel homozygous mutations in the transcription factor <i>NRL</i> cause non-syndromic retinitis pigmentosaMohammed E El-Asrag, Marta Corton, Martin McKibbin, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
Disease Models & Mechanisms|June 3, 2015
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathwayZakia A Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, et al.
Molecular Vision|January 23, 2004
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)Carmel Toomes, Louise M Downey, Helen M Bottomley, et al.
Breast Cancer Research and Treatment|August 12, 2009
Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinomaMohamed Kamal, Abeer M Shaaban, Liqun Zhang, et al.
Scientific Reports|April 2, 2019
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5Zakia A Abdelhamed, Dina I Abdelmottaleb, Mohammed E El-Asrag, et al.
American Journal of Ophthalmology|February 20, 2007
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutationsAmy C Cohn, Carmel Toomes, Catherine Potter, et al.
Journal of Medical Genetics|December 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVRDong Sun, Robert H Henderson, Emma Clement, et al.
Molecular Vision|October 11, 2003
Polymorphisms in OPA1 are associated with normal tension glaucomaBrenda L Powell, Carmel Toomes, Shiela Scott, et al.
Clinical & Experimental Ophthalmology|May 12, 2012
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutationsThomas L Edwards, Benjamin O Burt, Graeme C M Black, et al.
Ophthalmology|November 18, 2022
ReplyChris F Inglehearn, Samar Yahya, Claire E L Smith, et al.
Molecular Vision|June 13, 2022
Novel homozygous mutations in the transcription factor <i>NRL</i> cause non-syndromic retinitis pigmentosaMohammed E El-Asrag, Marta Corton, Martin McKibbin, et al.
Pageof 8