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Changwon Keum

Showing results (11-20 of 26) with videos related to

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Brain & Development|March 2, 2020
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndromeHyunji Ahn, Go Hun Seo, Changwon Keum, et al.
Genes|May 5, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean CohortYoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, et al.
Scientific Reports|July 21, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing lossSo Young Kim, Bong Jik Kim, Doo Yi Oh, et al.
BMC Medical Genomics|October 28, 2021
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in KoreaYena Lee, Yunha Choi, Go Hun Seo, et al.
BMC Medical Genomics|July 4, 2021
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and managementJiwon Jung, Joo Hoon Lee, Young Seo Park, et al.
Molecular Genetics & Genomic Medicine|December 24, 2022
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literatureYunha Choi, Jungmin Choi, Hyosang Do, et al.
Journal of Human Genetics|October 11, 2020
Clinical and molecular spectra of BRAF-associated RASopathyYena Lee, Yunha Choi, Go Hun Seo, et al.
Medicine|December 29, 2020
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotoniaHyunji Ahn, Go Hun Seo, Arum Oh, et al.
Scientific Reports|November 12, 2020
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patientsYou Na Kim, Joon Seon Song, Seak Hee Oh, et al.
Clinical Genetics|June 4, 2023
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical applicationJiwon Jung, Joo Hoon Lee, Go Hun Seo, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Brain & Development|March 2, 2020
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndromeHyunji Ahn, Go Hun Seo, Changwon Keum, et al.
Genes|May 5, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean CohortYoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, et al.
Scientific Reports|July 21, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing lossSo Young Kim, Bong Jik Kim, Doo Yi Oh, et al.
BMC Medical Genomics|October 28, 2021
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in KoreaYena Lee, Yunha Choi, Go Hun Seo, et al.
BMC Medical Genomics|July 4, 2021
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and managementJiwon Jung, Joo Hoon Lee, Young Seo Park, et al.
Molecular Genetics & Genomic Medicine|December 24, 2022
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literatureYunha Choi, Jungmin Choi, Hyosang Do, et al.
Journal of Human Genetics|October 11, 2020
Clinical and molecular spectra of BRAF-associated RASopathyYena Lee, Yunha Choi, Go Hun Seo, et al.
Medicine|December 29, 2020
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotoniaHyunji Ahn, Go Hun Seo, Arum Oh, et al.
Scientific Reports|November 12, 2020
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patientsYou Na Kim, Joon Seon Song, Seak Hee Oh, et al.
Clinical Genetics|June 4, 2023
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical applicationJiwon Jung, Joo Hoon Lee, Go Hun Seo, et al.
Pageof 3