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Gabrielle Wheway

Showing results (11-20 of 52) with videos related to

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Frontiers in Genetics|April 11, 2019
A Combined <i>in silico</i>, <i>in vitro</i> and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis PigmentosaGabrielle Wheway, Liliya Nazlamova, Nervine Meshad, et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms|July 29, 2022
Pathogenic KDM5B variants in the context of developmental disordersJack Harrington, Gabrielle Wheway, Sandrine Willaime-Morawek, et al.
Journal of Materials Science. Materials in Medicine|July 23, 2018
Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applicationsGráinne Neary, Ashley W Blom, Anna I Shiel, 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.
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.
Cilia|June 4, 2013
The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortiumTeunis Jp van Dam, Gabrielle Wheway, Gisela G Slaats, 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.
Reproduction & Fertility|August 16, 2022
Endometrial gland specific progestagen-associated endometrial protein and cilia gene splicing changes in recurrent pregnancy lossJennifer Pearson-Farr, Gabrielle Wheway, Maaike Sybil Jongen, et al.
BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5<sup>-/-</sup> cell model of retinitis pigmentosaSuly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, et al.
Frontiers in Genetics|September 30, 2022
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutationsLiliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, et al.
Pageof 6

Showing results (11-20 of 52) with videos related to

Sort By:
Pageof 6
Frontiers in Genetics|April 11, 2019
A Combined <i>in silico</i>, <i>in vitro</i> and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis PigmentosaGabrielle Wheway, Liliya Nazlamova, Nervine Meshad, et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms|July 29, 2022
Pathogenic KDM5B variants in the context of developmental disordersJack Harrington, Gabrielle Wheway, Sandrine Willaime-Morawek, et al.
Journal of Materials Science. Materials in Medicine|July 23, 2018
Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applicationsGráinne Neary, Ashley W Blom, Anna I Shiel, 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.
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.
Cilia|June 4, 2013
The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortiumTeunis Jp van Dam, Gabrielle Wheway, Gisela G Slaats, 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.
Reproduction & Fertility|August 16, 2022
Endometrial gland specific progestagen-associated endometrial protein and cilia gene splicing changes in recurrent pregnancy lossJennifer Pearson-Farr, Gabrielle Wheway, Maaike Sybil Jongen, et al.
BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5<sup>-/-</sup> cell model of retinitis pigmentosaSuly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, et al.
Frontiers in Genetics|September 30, 2022
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutationsLiliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, et al.
Pageof 6