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Haloom Rafehi

Showing results (41-50 of 44) with videos related to

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American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
Journal of the Neurological Sciences|December 14, 2020
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspectiveDhamidhu Eratne, Amy Schneider, Ella Lynch, 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.
Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.
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Showing results (41-50 of 44) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 44 results.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
Journal of the Neurological Sciences|December 14, 2020
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspectiveDhamidhu Eratne, Amy Schneider, Ella Lynch, 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.
Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.
Pageof 5