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Monkol Lek

Showing results (31-40 of 153) with videos related to

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Molecular Syndromology|September 8, 2017
Whole-Exome Sequencing Reveals <b></b> Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case ReportAmelie T van der Ven, Shirlee Shril, Hadas Ityel, et al.
Nature Genetics|August 18, 2016
Patterns of genic intolerance of rare copy number variation in 59,898 human exomesDouglas M Ruderfer, Tymor Hamamsy, Monkol Lek, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
Journal of Neuromuscular Diseases|September 10, 2019
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice ModulationYing Hu, Payam Mohassel, Sandra Donkervoort, et al.
Cell Death & Disease|November 16, 2023
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanismJustin Cohen, Shushu Huang, Katherine E Koczwara, et al.
Clinical Genetics|January 6, 2022
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11Yi-Dan Liu, Shu-Shu Huang, Mei Li, et al.
Annals of Neurology|April 24, 2012
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disabilityJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesWei Liu, Sander Pajusalu, Nicole J Lake, et al.
Annals of Clinical and Translational Neurology|January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophyHernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.
Pageof 16

Showing results (31-40 of 153) with videos related to

Sort By:
Pageof 16
Molecular Syndromology|September 8, 2017
Whole-Exome Sequencing Reveals <b></b> Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case ReportAmelie T van der Ven, Shirlee Shril, Hadas Ityel, et al.
Nature Genetics|August 18, 2016
Patterns of genic intolerance of rare copy number variation in 59,898 human exomesDouglas M Ruderfer, Tymor Hamamsy, Monkol Lek, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
Journal of Neuromuscular Diseases|September 10, 2019
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice ModulationYing Hu, Payam Mohassel, Sandra Donkervoort, et al.
Cell Death & Disease|November 16, 2023
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanismJustin Cohen, Shushu Huang, Katherine E Koczwara, et al.
Clinical Genetics|January 6, 2022
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11Yi-Dan Liu, Shu-Shu Huang, Mei Li, et al.
Annals of Neurology|April 24, 2012
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disabilityJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesWei Liu, Sander Pajusalu, Nicole J Lake, et al.
Annals of Clinical and Translational Neurology|January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophyHernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.
Pageof 16