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Kayli C Davies

Showing results (1-10 of 7) with videos related to

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Stem Cell Research|February 22, 2023
Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1Kayli C Davies, Kiymet Bozaoglu, Paul J Lockhart
Emerging Topics in Life Sciences|October 27, 2023
Challenges facing repeat expansion identification, characterisation, and the pathway to discoveryJustin L Read, Kayli C Davies, Genevieve C Thompson, et al.
Stem Cell Research|January 7, 2026
Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1Kiymet Bozaoglu, Sarah Massie, Friederike Elise Irion, et al.
Cerebellum (London, England)|June 6, 2025
Comprehensive Characterisation of the RFC1 Repeat in an Australian CohortKayli C Davies, Haloom Rafehi, Liam G Fearnley, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Genome Research|February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxiaHaloom Rafehi, Liam G Fearnley, Justin Read, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Stem Cell Research|February 22, 2023
Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1Kayli C Davies, Kiymet Bozaoglu, Paul J Lockhart
Emerging Topics in Life Sciences|October 27, 2023
Challenges facing repeat expansion identification, characterisation, and the pathway to discoveryJustin L Read, Kayli C Davies, Genevieve C Thompson, et al.
Stem Cell Research|January 7, 2026
Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1Kiymet Bozaoglu, Sarah Massie, Friederike Elise Irion, et al.
Cerebellum (London, England)|June 6, 2025
Comprehensive Characterisation of the RFC1 Repeat in an Australian CohortKayli C Davies, Haloom Rafehi, Liam G Fearnley, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Genome Research|February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxiaHaloom Rafehi, Liam G Fearnley, Justin Read, et al.
Pageof 1