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Mark R Davis

Showing results (1-10 of 55) with videos related to

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Human Mutation|June 24, 2008
Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skippingHeidi R Madden, Sue Fletcher, Mark R Davis, et al.
Journal of Oncology Pharmacy Practice : Official Publication of the International Society of Oncology Pharmacy Practitioners|May 15, 2021
Retrospective analysis of mortality within 30 days of systemic anticancer therapy and comparison with a previous audit at an Australian Regional Cancer CentreBernadatte Zimbwa, Peter J Gilbar, Mark R Davis, et al.
Seminars in Cell & Developmental Biology|August 14, 2016
New era in genetics of early-onset muscle disease: Breakthroughs and challengesGianina Ravenscroft, Mark R Davis, Phillipa Lamont, et al.
Muscle & Nerve|February 2, 2010
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen diseaseKishore R Kumar, Karl Ng, Himesha Vandebona, et al.
The Clinical Biochemist. Reviews|September 14, 2011
Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapiesNigel G Laing, Mark R Davis, Klair Bayley, et al.
Molecular Diagnosis & Therapy|September 30, 2020
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular DisordersSarah J Beecroft, Phillipa J Lamont, Samantha Edwards, et al.
The Journal of Molecular Diagnostics : JMD|June 26, 2025
Diagnosis of Australasian Patients with Neuromuscular Disease: Insights from a Comprehensive Panel ApproachCarolin K Scriba, Fathimath Faiz, Michael Black, et al.
Neuropathology and Applied Neurobiology|June 24, 2021
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and diseaseEdoardo Malfatti, Tara Catchpool, Sonia Nouioua, et al.
Brain : a Journal of Neurology|October 21, 2017
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremorAriana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, et al.
Brain Communications|April 27, 2026
Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxiasCarolin K Scriba, Chiara Folland, Michael Black, et al.
Pageof 6

Showing results (1-10 of 55) with videos related to

Sort By:
Pageof 6
Human Mutation|June 24, 2008
Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skippingHeidi R Madden, Sue Fletcher, Mark R Davis, et al.
Journal of Oncology Pharmacy Practice : Official Publication of the International Society of Oncology Pharmacy Practitioners|May 15, 2021
Retrospective analysis of mortality within 30 days of systemic anticancer therapy and comparison with a previous audit at an Australian Regional Cancer CentreBernadatte Zimbwa, Peter J Gilbar, Mark R Davis, et al.
Seminars in Cell & Developmental Biology|August 14, 2016
New era in genetics of early-onset muscle disease: Breakthroughs and challengesGianina Ravenscroft, Mark R Davis, Phillipa Lamont, et al.
Muscle & Nerve|February 2, 2010
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen diseaseKishore R Kumar, Karl Ng, Himesha Vandebona, et al.
The Clinical Biochemist. Reviews|September 14, 2011
Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapiesNigel G Laing, Mark R Davis, Klair Bayley, et al.
Molecular Diagnosis & Therapy|September 30, 2020
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular DisordersSarah J Beecroft, Phillipa J Lamont, Samantha Edwards, et al.
The Journal of Molecular Diagnostics : JMD|June 26, 2025
Diagnosis of Australasian Patients with Neuromuscular Disease: Insights from a Comprehensive Panel ApproachCarolin K Scriba, Fathimath Faiz, Michael Black, et al.
Neuropathology and Applied Neurobiology|June 24, 2021
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and diseaseEdoardo Malfatti, Tara Catchpool, Sonia Nouioua, et al.
Brain : a Journal of Neurology|October 21, 2017
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremorAriana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, et al.
Brain Communications|April 27, 2026
Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxiasCarolin K Scriba, Chiara Folland, Michael Black, et al.
Pageof 6