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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 ageless
Mathew Wallis, Simon D Bodek, Jacob Munro, 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 ataxia
Haloom Rafehi, Liam G Fearnley, Justin Read, et al.
American Heart Journal
|
June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Johanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
Brain : a Journal of Neurology
|
August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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Search research articles
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Showing results (11-20 of 14) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 14 results.
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 ageless
Mathew Wallis, Simon D Bodek, Jacob Munro, 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 ataxia
Haloom Rafehi, Liam G Fearnley, Justin Read, et al.
American Heart Journal
|
June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Johanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
Brain : a Journal of Neurology
|
August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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of 2