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Jennifer Roggenbuck

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Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 10, 2023
Clinical testing panels for ALS: global distribution, consistency, and challengesAllison A Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, et al.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Nature Neuroscience|February 4, 2022
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell linesEmily G Baxi, Terri Thompson, Jonathan Li, et al.
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Showing results (31-40 of 34) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 34 results.
Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 10, 2023
Clinical testing panels for ALS: global distribution, consistency, and challengesAllison A Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, et al.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Nature Neuroscience|February 4, 2022
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell linesEmily G Baxi, Terri Thompson, Jonathan Li, et al.
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