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Haloom Rafehi

Showing results (31-40 of 44) with videos related to

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Human Mutation|October 11, 2021
A family study implicates GBE1 in the etiology of autism spectrum disorderMiriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, 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.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|November 17, 2020
Infanticide vs. inherited cardiac arrhythmiasMalene Brohus, Todor Arsov, David A Wallace, et al.
American Journal of Human Genetics|June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
The Journal of Clinical Investigation|January 12, 2023
Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetesIshant Khurana, Harikrishnan Kaipananickal, Scott Maxwell, 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.
Circulation|March 8, 2021
Sex-Specific Control of Human Heart Maturation by the Progesterone ReceptorChoon Boon Sim, Belinda Phipson, Mark Ziemann, et al.
Orphanet Journal of Rare Diseases|August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessMathew Wallis, Simon D Bodek, Jacob Munro, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Human Mutation|October 11, 2021
A family study implicates GBE1 in the etiology of autism spectrum disorderMiriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, 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.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|November 17, 2020
Infanticide vs. inherited cardiac arrhythmiasMalene Brohus, Todor Arsov, David A Wallace, et al.
American Journal of Human Genetics|June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
The Journal of Clinical Investigation|January 12, 2023
Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetesIshant Khurana, Harikrishnan Kaipananickal, Scott Maxwell, 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.
Circulation|March 8, 2021
Sex-Specific Control of Human Heart Maturation by the Progesterone ReceptorChoon Boon Sim, Belinda Phipson, Mark Ziemann, et al.
Orphanet Journal of Rare Diseases|August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessMathew Wallis, Simon D Bodek, Jacob Munro, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Pageof 5