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11 . Academic Journal
Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders
저자
by
Andrea Legati
;
Edoardo Giacopuzzi
;
Marco Spinazzi
;
Monkol Lek
.
소스
Frontiers in Neurology, Vol 12 (2021)
Open Access (DOAJ)
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16 . Academic Journal
STRetch: detecting and discovering pathogenic short tandem repeat expansions
저자
by
Harriet Dashnow
;
Monkol Lek
;
Belinda Phipson
;
Andreas Halman
;
Simon Sadedin
, et al.
소스
Genome Biology, Vol 19, Iss 1, Pp 1-13 (2018)
Open Access (BioMed Central)
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17 . Academic Journal
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
저자
by
Katherine Johnson
;
Marta Bertoli
;
Lauren Phillips
;
Ana Töpf
;
Peter Van den Bergh
, et al.
소스
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
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17 . Academic Journal
Cellular and animal models for facioscapulohumeral muscular dystrophy
저자
by
Alec M. DeSimone
;
Justin Cohen
;
Monkol Lek
;
Angela Lek
.
소스
Disease Models & Mechanisms, Vol 13, Iss 10 (2020)
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16 . Academic Journal
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
저자
by
Katherine Johnson
;
Ana Töpf
;
Marta Bertoli
;
Lauren Phillips
;
Kristl G. Claeys
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
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17 . Academic Journal
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
저자
by
Elizabeth Harris
;
Ana Topf
;
Rita Barresi
;
Judith Hudson
;
Helen Powell
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
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17 . Academic Journal
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
저자
by
Sara M. Willems
;
Daniel J. Wright
;
Felix R. Day
;
Katerina Trajanoska
;
Peter K. Joshi
, et al.
소스
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
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17 . Academic Journal
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
저자
by
James Zou
;
Gregory Valiant
;
Paul Valiant
;
Konrad Karczewski
;
Siu On Chan
, et al.
소스
Nature Communications, Vol 7, Iss 1, Pp 1-5 (2016)
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17 . Academic Journal
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
저자
by
Manuel A. Rivas
;
Daniel Graham
;
Patrick Sulem
;
Christine Stevens
;
A. Nicole Desch
, et al.
소스
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
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17 . Academic Journal
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
저자
by
Manuel A Rivas
;
Brandon E Avila
;
Jukka Koskela
;
Hailiang Huang
;
Christine Stevens
, et al.
소스
PLoS Genetics, Vol 15, Iss 5, p e1008190 (2019)
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