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Mark R Davis

Showing results (21-30 of 55) with videos related to

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American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Brain Communications|August 25, 2023
<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnosticsCarolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Neuromuscular Disorders : NMD|May 28, 2019
Recessive MYH7-related myopathy in two familiesSarah J Beecroft, Martijn van de Locht, Josine M de Winter, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Science Advances|March 4, 2022
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencingIgor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.
Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
Pageof 6

Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Brain Communications|August 25, 2023
<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnosticsCarolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Neuromuscular Disorders : NMD|May 28, 2019
Recessive MYH7-related myopathy in two familiesSarah J Beecroft, Martijn van de Locht, Josine M de Winter, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Science Advances|March 4, 2022
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencingIgor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.
Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
Pageof 6