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Journal of Neuromuscular Diseases|November 19, 2016
The Challenge of Next Generation Sequencing in the Context of Neuromuscular DiseasesMonkol Lek, Daniel MacArthur
Bioinformatics (Oxford, England)|July 3, 2009
HI: haplotype improver using paired-end short readsQuan Long, Daniel MacArthur, Zemin Ning, et al.
Nature Methods|July 18, 2018
A synthetic-diploid benchmark for accurate variant-calling evaluationHeng Li, Jonathan M Bloom, Yossi Farjoun, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Neuromuscular Disorders : NMD|November 13, 2017
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypesElizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, et al.
HGG Advances|January 17, 2025
Pitfalls in performing genome-wide association studies on ratio traitsZachary R McCaw, Rounak Dey, Hari Somineni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Using high-resolution variant frequencies to empower clinical genome interpretationNicola Whiffin, Eric Minikel, Roddy Walsh, et al.
Annals of Clinical and Translational Neurology|January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophyHernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
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