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Hane Lee

Showing results (81-90 of 134) with videos related to

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Gastroenterology|June 24, 2008
Identification of EpCAM as the gene for congenital tufting enteropathyMamata Sivagnanam, James L Mueller, Hane Lee, et al.
Neurogenetics|March 19, 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegiaMarija Brankovic, Vukan Ivanovic, Ivana Basta, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
Annals of Clinical and Translational Neurology|October 15, 2020
Novel NUDT2 variant causes intellectual disability and polyneuropathyFrank Diaz, Shaweta Khosa, Dmitriy Niyazov, et al.
NPJ Genomic Medicine|December 7, 2025
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean familiesSeungbok Lee, Go Hun Seo, Soo Yeon Kim, et al.
American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
International Journal of Molecular Sciences|November 9, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic ManagementMarcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-Del Angel, et al.
Frontiers in Cardiovascular Medicine|July 22, 2024
High prevalence of <i>ALPK3</i> premature terminating variants in Korean hypertrophic cardiomyopathy patientsSeung Woo Ryu, Won Chan Jeong, Geu Ru Hong, et al.
Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.
Pageof 14

Showing results (81-90 of 134) with videos related to

Sort By:
Pageof 14
Gastroenterology|June 24, 2008
Identification of EpCAM as the gene for congenital tufting enteropathyMamata Sivagnanam, James L Mueller, Hane Lee, et al.
Neurogenetics|March 19, 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegiaMarija Brankovic, Vukan Ivanovic, Ivana Basta, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
Annals of Clinical and Translational Neurology|October 15, 2020
Novel NUDT2 variant causes intellectual disability and polyneuropathyFrank Diaz, Shaweta Khosa, Dmitriy Niyazov, et al.
NPJ Genomic Medicine|December 7, 2025
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean familiesSeungbok Lee, Go Hun Seo, Soo Yeon Kim, et al.
American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
International Journal of Molecular Sciences|November 9, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic ManagementMarcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-Del Angel, et al.
Frontiers in Cardiovascular Medicine|July 22, 2024
High prevalence of <i>ALPK3</i> premature terminating variants in Korean hypertrophic cardiomyopathy patientsSeung Woo Ryu, Won Chan Jeong, Geu Ru Hong, et al.
Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.
Pageof 14