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Claire Hardcastle

Showing results (1-10 of 8) with videos related to

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European Journal of Human Genetics : EJHG|June 7, 2024
Using computational approaches to enhance the interpretation of missense variants in the PAX6 geneNadya S Andhika, Susmito Biswas, Claire Hardcastle, et al.
The Journal of Molecular Diagnostics : JMD|October 3, 2022
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural ModelingShalaw R Sallah, Panagiotis I Sergouniotis, Claire Hardcastle, et al.
Clinical Genetics|December 8, 2021
Embryonal sarcoma of the liver in a girl with Cockayne syndromeColin Thorbinson, Anthony Penn, Pantelis Nicola, et al.
Genes|April 28, 2023
The Role of Genetic Testing in Children Requiring Surgery for Ectopia LentisMohammud Musleh, Adam Bull, Emma Linton, et al.
European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Ophthalmology|March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal DiseaseRachel L Taylor, Neil R A Parry, Stephanie J Barton, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
European Journal of Human Genetics : EJHG|June 7, 2024
Using computational approaches to enhance the interpretation of missense variants in the PAX6 geneNadya S Andhika, Susmito Biswas, Claire Hardcastle, et al.
The Journal of Molecular Diagnostics : JMD|October 3, 2022
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural ModelingShalaw R Sallah, Panagiotis I Sergouniotis, Claire Hardcastle, et al.
Clinical Genetics|December 8, 2021
Embryonal sarcoma of the liver in a girl with Cockayne syndromeColin Thorbinson, Anthony Penn, Pantelis Nicola, et al.
Genes|April 28, 2023
The Role of Genetic Testing in Children Requiring Surgery for Ectopia LentisMohammud Musleh, Adam Bull, Emma Linton, et al.
European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Ophthalmology|March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal DiseaseRachel L Taylor, Neil R A Parry, Stephanie J Barton, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Pageof 1