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Monkol Lek

Showing results (51-60 of 153) with videos related to

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Nature Communications|November 23, 2024
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasmsYun Soo Hong, Sergiu Pasca, Wen Shi, et al.
Scientific Reports|September 15, 2021
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expressionChaozhe Yang, Naoe Harafuji, Amber K O'Connor, et al.
Human Molecular Genetics|May 4, 2011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingJane T Seto, Monkol Lek, Kate G R Quinlan, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Frontiers in Genetics|February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related NeurodegenerationIeva Micule, Baiba Lace, Nathan T Wright, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)Kaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Genome Research|January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomADKristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.
Cell|September 26, 2024
Saturation mutagenesis-reinforced functional assays for disease-related genesKaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Science Translational Medicine|March 28, 2020
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophyAngela Lek, Yuanfan Zhang, Keryn G Woodman, et al.
Pageof 16

Showing results (51-60 of 153) with videos related to

Sort By:
Pageof 16
Nature Communications|November 23, 2024
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasmsYun Soo Hong, Sergiu Pasca, Wen Shi, et al.
Scientific Reports|September 15, 2021
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expressionChaozhe Yang, Naoe Harafuji, Amber K O'Connor, et al.
Human Molecular Genetics|May 4, 2011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingJane T Seto, Monkol Lek, Kate G R Quinlan, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Frontiers in Genetics|February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related NeurodegenerationIeva Micule, Baiba Lace, Nathan T Wright, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)Kaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Genome Research|January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomADKristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.
Cell|September 26, 2024
Saturation mutagenesis-reinforced functional assays for disease-related genesKaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Science Translational Medicine|March 28, 2020
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophyAngela Lek, Yuanfan Zhang, Keryn G Woodman, et al.
Pageof 16