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In-Hee Choi

Showing results (21-30 of 43) with videos related to

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Molecular Genetics and Metabolism Reports|August 19, 2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndromeJoonil Kim, Eungu Kang, Yoonmyung Kim, 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.
Genes|March 6, 2021
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in HumansYeonmi Lee, Taeho Kim, Miju Lee, et al.
Korean Journal of Pediatrics|December 27, 2016
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphismsYoon-Myung Kim, In-Hee Choi, Jun Suk Kim, 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|March 14, 2014
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher diseaseKyu Ha Woo, Beom Hee Lee, Sun Hee Heo, et al.
BMC Medical Genomics|September 29, 2022
Clinical and genetic analyses of patients with lateralized overgrowthYoon-Myung Kim, Yena Lee, Yunha Choi, 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.
Molecular Medicine (Cambridge, Mass.)|March 3, 2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesYoo-Mi Kim, Ja Hye Kim, Jin Choi, 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.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism Reports|August 19, 2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndromeJoonil Kim, Eungu Kang, Yoonmyung Kim, 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.
Genes|March 6, 2021
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in HumansYeonmi Lee, Taeho Kim, Miju Lee, et al.
Korean Journal of Pediatrics|December 27, 2016
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphismsYoon-Myung Kim, In-Hee Choi, Jun Suk Kim, 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|March 14, 2014
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher diseaseKyu Ha Woo, Beom Hee Lee, Sun Hee Heo, et al.
BMC Medical Genomics|September 29, 2022
Clinical and genetic analyses of patients with lateralized overgrowthYoon-Myung Kim, Yena Lee, Yunha Choi, 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.
Molecular Medicine (Cambridge, Mass.)|March 3, 2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesYoo-Mi Kim, Ja Hye Kim, Jin Choi, 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.
Pageof 5