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Daniel G MacArthur

Showing results (61-70 of 216) with videos related to

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Nature Genetics|April 4, 2017
Estimating the selective effects of heterozygous protein-truncating variants from human exome dataChristopher A Cassa, Donate Weghorn, Daniel J Balick, et al.
Plos Genetics|May 3, 2014
Allelic expression of deleterious protein-coding variants across human tissuesKimberly R Kukurba, Rui Zhang, Xin Li, et al.
Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.
Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
Muscle & Nerve|March 3, 2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, EgyptHemakumar M Reddy, Sherifa A Hamed, Monkol Lek, et al.
Nature|May 29, 2020
Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
Neuromuscular Disorders : NMD|September 28, 2007
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesisHarriet P Lo, Sandra T Cooper, Frances J Evesson, et al.
Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.
Pageof 22

Showing results (61-70 of 216) with videos related to

Sort By:
Pageof 22
Nature Genetics|April 4, 2017
Estimating the selective effects of heterozygous protein-truncating variants from human exome dataChristopher A Cassa, Donate Weghorn, Daniel J Balick, et al.
Plos Genetics|May 3, 2014
Allelic expression of deleterious protein-coding variants across human tissuesKimberly R Kukurba, Rui Zhang, Xin Li, et al.
Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.
Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
Muscle & Nerve|March 3, 2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, EgyptHemakumar M Reddy, Sherifa A Hamed, Monkol Lek, et al.
Nature|May 29, 2020
Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
Neuromuscular Disorders : NMD|September 28, 2007
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesisHarriet P Lo, Sandra T Cooper, Frances J Evesson, et al.
Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.
Pageof 22