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Mark R Davis

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American Journal of Human Genetics|November 4, 2022

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.

The New England Journal of Medicine|November 20, 2024

Nationwide, Couple-Based Genetic Carrier ScreeningEdwin P Kirk, Martin B Delatycki, Alison D Archibald, et al.

Annals of Neurology|April 26, 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.

Nature Genetics|March 1, 2024

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.

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Search research articles

Showing results (51-60 of 55) with videos related to

Sort By:

Pageof 6

You have reached the last page of results.This site can display upto 55 results.

American Journal of Human Genetics|November 4, 2022

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.

The New England Journal of Medicine|November 20, 2024

Nationwide, Couple-Based Genetic Carrier ScreeningEdwin P Kirk, Martin B Delatycki, Alison D Archibald, et al.

Annals of Neurology|April 26, 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.

Nature Genetics|March 1, 2024

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.

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