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Hane Lee

Showing results (61-70 of 134) with videos related to

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Research Square|March 30, 2023
Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic CounselingYin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, et al.
International Journal of Molecular Sciences|December 30, 2025
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of <i>YARS2</i>José Rafael Villafán-Bernal, Jhonatan Rosas-Hernández, Humberto García-Ortiz, et al.
JAMA Neurology|August 19, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaBrent L Fogel, Hane Lee, Joshua L Deignan, et al.
Human Mutation|July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Molecular Genetics and Metabolism|July 25, 2016
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletionAshlee R Stiles, Mariella T Simon, Alexander Stover, et al.
Frontiers in Cardiovascular Medicine|January 24, 2022
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in <i>TSFM</i> Gene Causing Juvenile Hypertrophic CardiomyopathyJamie O Yang, Hapet Shaybekyan, Yan Zhao, et al.
NPJ Genomic Medicine|September 5, 2017
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformationXiaoyan Ge, Henry Gong, Kevin Dumas, et al.
Ophthalmic Genetics|December 17, 2021
A homozygous in-frame duplication within the LRRCT consensus sequence of <i>CFAP410</i> causes cone-rod dystrophy, macular staphyloma and short statureNing Chiu, Winston Lee, Pei-Kang Liu, et al.
Frontiers in Molecular Biosciences|October 25, 2016
Effects of a Mutation in the <i>HSPE1</i> Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental DisorderAnne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, et al.
Neurology. Genetics|April 15, 2024
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical TestingSonya Watson, Kathie J Ngo, Hannah A Stevens, et al.
Pageof 14

Showing results (61-70 of 134) with videos related to

Sort By:
Pageof 14
Research Square|March 30, 2023
Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic CounselingYin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, et al.
International Journal of Molecular Sciences|December 30, 2025
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of <i>YARS2</i>José Rafael Villafán-Bernal, Jhonatan Rosas-Hernández, Humberto García-Ortiz, et al.
JAMA Neurology|August 19, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaBrent L Fogel, Hane Lee, Joshua L Deignan, et al.
Human Mutation|July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Molecular Genetics and Metabolism|July 25, 2016
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletionAshlee R Stiles, Mariella T Simon, Alexander Stover, et al.
Frontiers in Cardiovascular Medicine|January 24, 2022
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in <i>TSFM</i> Gene Causing Juvenile Hypertrophic CardiomyopathyJamie O Yang, Hapet Shaybekyan, Yan Zhao, et al.
NPJ Genomic Medicine|September 5, 2017
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformationXiaoyan Ge, Henry Gong, Kevin Dumas, et al.
Ophthalmic Genetics|December 17, 2021
A homozygous in-frame duplication within the LRRCT consensus sequence of <i>CFAP410</i> causes cone-rod dystrophy, macular staphyloma and short statureNing Chiu, Winston Lee, Pei-Kang Liu, et al.
Frontiers in Molecular Biosciences|October 25, 2016
Effects of a Mutation in the <i>HSPE1</i> Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental DisorderAnne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, et al.
Neurology. Genetics|April 15, 2024
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical TestingSonya Watson, Kathie J Ngo, Hannah A Stevens, et al.
Pageof 14