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Mark R Davis

Showing results (11-20 of 55) with videos related to

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Neuromuscular Disorders : NMD|October 30, 2016
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyriaGianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, et al.
Neuromuscular Disorders : NMD|November 27, 2004
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutationsHeinz Jungbluth, Mark R Davis, Clemens Müller, et al.
Neuromuscular Disorders : NMD|May 31, 2017
Expanding the phenotypic spectrum associated with mutations of DYNC1H1Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, et al.
BMC Ophthalmology|February 26, 2020
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case reportAisling B Mc Glacken-Byrne, David Prentice, Danial Roshandel, et al.
Cerebellum (London, England)|January 25, 2023
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, et al.
Brain and Behavior|April 20, 2018
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneitySanne M R Hobbelink, Cain R Brockley, Rachel A Kennedy, et al.
Neuropathology and Applied Neurobiology|August 13, 2022
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathyChiara Folland, Russell Johnsen, Adriana Botero Gomez, et al.
Human Molecular Genetics|November 2, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanismLein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutationsGianina Ravenscroft, Elizabeth M Thompson, Emily J Todd, et al.
Human Mutation|September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonateLauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
Pageof 6

Showing results (11-20 of 55) with videos related to

Sort By:
Pageof 6
Neuromuscular Disorders : NMD|October 30, 2016
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyriaGianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, et al.
Neuromuscular Disorders : NMD|November 27, 2004
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutationsHeinz Jungbluth, Mark R Davis, Clemens Müller, et al.
Neuromuscular Disorders : NMD|May 31, 2017
Expanding the phenotypic spectrum associated with mutations of DYNC1H1Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, et al.
BMC Ophthalmology|February 26, 2020
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case reportAisling B Mc Glacken-Byrne, David Prentice, Danial Roshandel, et al.
Cerebellum (London, England)|January 25, 2023
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, et al.
Brain and Behavior|April 20, 2018
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneitySanne M R Hobbelink, Cain R Brockley, Rachel A Kennedy, et al.
Neuropathology and Applied Neurobiology|August 13, 2022
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathyChiara Folland, Russell Johnsen, Adriana Botero Gomez, et al.
Human Molecular Genetics|November 2, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanismLein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutationsGianina Ravenscroft, Elizabeth M Thompson, Emily J Todd, et al.
Human Mutation|September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonateLauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
Pageof 6