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Chloe Stutterd

Showing results (11-20 of 14) with videos related to

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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 agelessMathew 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 ataxiaHaloom 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 variantsJohanna 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 implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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Showing results (11-20 of 14) with videos related to

Sort By:
Pageof 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 agelessMathew 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 ataxiaHaloom 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 variantsJohanna 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 implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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