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Daniel G MacArthur

Showing results (91-100 of 216) with videos related to

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Genome Research|January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomADKristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Human Molecular Genetics|January 8, 2008
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performanceDaniel G MacArthur, Jane T Seto, Stephen Chan, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
Nature Genetics|September 11, 2007
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humansDaniel G MacArthur, Jane T Seto, Joanna M Raftery, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Pageof 22

Showing results (91-100 of 216) with videos related to

Sort By:
Pageof 22
Genome Research|January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomADKristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Human Molecular Genetics|January 8, 2008
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performanceDaniel G MacArthur, Jane T Seto, Stephen Chan, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
Nature Genetics|September 11, 2007
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humansDaniel G MacArthur, Jane T Seto, Joanna M Raftery, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Pageof 22