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Ermal Aliu

Showing results (11-20 of 17) with videos related to

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Child Neurology Open|November 30, 2023
A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic SyndromeCassie Chan, Lucy Emery, Caroline Maltese, et al.
Molecular Genetics and Metabolism|December 29, 2022
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine modelXue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
The Journal of Allergy and Clinical Immunology|January 18, 2025
Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation frameworkAlejandro Nieto-Patlán, Justyne Ross, Shruthi Mohan, et al.
Human Molecular Genetics|May 10, 2023
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine modelXue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
American Journal of Human Genetics|October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Child Neurology Open|November 30, 2023
A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic SyndromeCassie Chan, Lucy Emery, Caroline Maltese, et al.
Molecular Genetics and Metabolism|December 29, 2022
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine modelXue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
The Journal of Allergy and Clinical Immunology|January 18, 2025
Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation frameworkAlejandro Nieto-Patlán, Justyne Ross, Shruthi Mohan, et al.
Human Molecular Genetics|May 10, 2023
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine modelXue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, et al.
American Journal of Human Genetics|October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
Pageof 2