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Monkol Lek

Showing results (71-80 of 153) with videos related to

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Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
The Journal of Clinical Investigation|October 17, 2023
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseasesXuefei Tian, Christopher E Pedigo, Ke Li, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 4, 2025
Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral functionHanming Zhang, Diego Sáenz de Urturi, Pablo Fernández-Tussy, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2018
Extending the clinical and mutational spectrum of <i>TRIM32</i>-related myopathies in a non-Hutterite populationKatherine Johnson, Willem De Ridder, Ana Töpf, et al.
Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
The New England Journal of Medicine|September 27, 2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular DystrophyAngela Lek, Brenda Wong, Allison Keeler, et al.
Pageof 16

Showing results (71-80 of 153) with videos related to

Sort By:
Pageof 16
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
The Journal of Clinical Investigation|October 17, 2023
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseasesXuefei Tian, Christopher E Pedigo, Ke Li, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 4, 2025
Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral functionHanming Zhang, Diego Sáenz de Urturi, Pablo Fernández-Tussy, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2018
Extending the clinical and mutational spectrum of <i>TRIM32</i>-related myopathies in a non-Hutterite populationKatherine Johnson, Willem De Ridder, Ana Töpf, et al.
Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
The New England Journal of Medicine|September 27, 2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular DystrophyAngela Lek, Brenda Wong, Allison Keeler, et al.
Pageof 16