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Carmel Toomes

Showing results (1-10 of 72) with videos related to

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European Journal of Human Genetics : EJHG|December 2, 2005
Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'Helen M Bottomley, Louise M Downey, Chris F Inglehearn, et al.
The British Journal of Ophthalmology|January 19, 2011
Changing the status quo biasKamron N Khan, Manir Ali, Carmel Toomes, et al.
Developmental Biology|March 5, 2013
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndromeGabrielle Wheway, Zakia Abdelhamed, Subaashini Natarajan, et al.
Genes|February 3, 2021
The Role of Csmd1 during Mammary Gland DevelopmentSamuel J Burgess, Hannah Gibbs, Carmel Toomes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 15, 2022
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohortSunayna Best, Chris F Inglehearn, Christopher M Watson, et al.
Oncology Reports|May 24, 2017
Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasionMohamed Kamal, Deborah L Holliday, Ewan E Morrison, et al.
Human Molecular Genetics|January 4, 2013
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defectsZakia A Abdelhamed, Gabrielle Wheway, Katarzyna Szymanska, et al.
Human Mutation|September 10, 2011
DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear familiesIan M Carr, Colin A Johnson, Alex F Markham, et al.
Ophthalmology|June 9, 2009
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?David F Gilmour, Louise M Downey, Eamonn Sheridan, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 23, 2023
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 LocusBenjamin McClinton, Christopher M Watson, Laura A Crinnion, et al.
Pageof 8

Showing results (1-10 of 72) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|December 2, 2005
Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'Helen M Bottomley, Louise M Downey, Chris F Inglehearn, et al.
The British Journal of Ophthalmology|January 19, 2011
Changing the status quo biasKamron N Khan, Manir Ali, Carmel Toomes, et al.
Developmental Biology|March 5, 2013
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndromeGabrielle Wheway, Zakia Abdelhamed, Subaashini Natarajan, et al.
Genes|February 3, 2021
The Role of Csmd1 during Mammary Gland DevelopmentSamuel J Burgess, Hannah Gibbs, Carmel Toomes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 15, 2022
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohortSunayna Best, Chris F Inglehearn, Christopher M Watson, et al.
Oncology Reports|May 24, 2017
Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasionMohamed Kamal, Deborah L Holliday, Ewan E Morrison, et al.
Human Molecular Genetics|January 4, 2013
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defectsZakia A Abdelhamed, Gabrielle Wheway, Katarzyna Szymanska, et al.
Human Mutation|September 10, 2011
DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear familiesIan M Carr, Colin A Johnson, Alex F Markham, et al.
Ophthalmology|June 9, 2009
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?David F Gilmour, Louise M Downey, Eamonn Sheridan, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 23, 2023
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 LocusBenjamin McClinton, Christopher M Watson, Laura A Crinnion, et al.
Pageof 8