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In-Hee Choi

Showing results (31-40 of 43) with videos related to

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Journal of Pediatric Gastroenterology and Nutrition|August 24, 2013
Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegalyBeom Hee Lee, Yoo-Mi Kim, Ja Hye Kim, et al.
Molecular Genetics and Metabolism|December 19, 2012
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutationsBeom Hee Lee, Yoo-Mi Kim, Sun Hee Heo, et al.
Journal of Medical Genetics|April 6, 2018
Biochemical and molecular characterisation of neurological Wilson diseaseGo Hun Seo, Yoon-Myung Kim, Seak Hee Oh, et al.
Journal of Human Genetics|June 28, 2013
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndromeBeom Hee Lee, Gu-Hwan Kim, Tae Jeong Oh, et al.
Journal of Human Genetics|February 25, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeDohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, et al.
Clinical and Translational Medicine|May 20, 2022
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher diseaseEun Na Kim, Hyo-Sang Do, Hwangkyo Jeong, et al.
Journal of Medical Genetics|August 25, 2017
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapySun Hee Heo, Eungu Kang, Yoon-Myung Kim, et al.
Journal of Medical Genetics|October 14, 2020
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short statureEungu Kang, Minji Kang, Younghee Ju, et al.
Clinical Genetics|September 9, 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCEGo Hun Seo, Taeho Kim, In Hee Choi, et al.
Molecular Medicine (Cambridge, Mass.)|March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delayGo Hun Seo, Hane Lee, Jungsul Lee, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Journal of Pediatric Gastroenterology and Nutrition|August 24, 2013
Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegalyBeom Hee Lee, Yoo-Mi Kim, Ja Hye Kim, et al.
Molecular Genetics and Metabolism|December 19, 2012
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutationsBeom Hee Lee, Yoo-Mi Kim, Sun Hee Heo, et al.
Journal of Medical Genetics|April 6, 2018
Biochemical and molecular characterisation of neurological Wilson diseaseGo Hun Seo, Yoon-Myung Kim, Seak Hee Oh, et al.
Journal of Human Genetics|June 28, 2013
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndromeBeom Hee Lee, Gu-Hwan Kim, Tae Jeong Oh, et al.
Journal of Human Genetics|February 25, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeDohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, et al.
Clinical and Translational Medicine|May 20, 2022
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher diseaseEun Na Kim, Hyo-Sang Do, Hwangkyo Jeong, et al.
Journal of Medical Genetics|August 25, 2017
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapySun Hee Heo, Eungu Kang, Yoon-Myung Kim, et al.
Journal of Medical Genetics|October 14, 2020
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short statureEungu Kang, Minji Kang, Younghee Ju, et al.
Clinical Genetics|September 9, 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCEGo Hun Seo, Taeho Kim, In Hee Choi, et al.
Molecular Medicine (Cambridge, Mass.)|March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delayGo Hun Seo, Hane Lee, Jungsul Lee, et al.
Pageof 5