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Journal of Human Genetics
|
December 22, 2017
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients
Beom Hee Lee, Fanny Morice-Picard, Franck Boralevi, et al.
The Journal of Molecular Diagnostics : JMD
|
February 19, 2026
High-yield DNA-based neurofibromatosis type 1 diagnostics reveals population-specific mutation landscape in 1,917 Koreans
Jaeryuk Kim, Gu-Hwan Kim, Soojin Hwang, et al.
Journal of Medical Genetics
|
July 1, 2017
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
Beom Hee Lee, Aneel Aggarwal, Anne Slavotinek, et al.
Neurology
|
January 12, 2022
Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis
Jisun Hwang, Hee Mang Yoon, Beom Hee Lee, et al.
Medicine
|
February 9, 2017
Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease
Eungu Kang, Yoon-Myung Kim, Dae-Hee Kim, et al.
Medicine
|
March 13, 2026
Caregiver quality of life and burden in rare genetic diseases in South Korea
Sunyoung Choi, Ja Hye Kim, Gu-Hwan Kim, et al.
Metabolic Brain Disease
|
March 26, 2013
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant
Seung Jin Kim, Beom Hee Lee, Yoo-Mi Kim, et al.
Frontiers in Endocrinology
|
September 25, 2023
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome
Anna Go, Beom Hee Lee, Jin-Ho Choi, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Identification of the mechanism underlying a human chimera by SNP array analysis
So Youn Shin, Han-Wook Yoo, Beom Hee Lee, et al.
Genes
|
November 19, 2020
Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, et al.
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Search research articles
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Showing results (11-20 of 197) with videos related to
Sort By:
Page
of 20
Journal of Human Genetics
|
December 22, 2017
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients
Beom Hee Lee, Fanny Morice-Picard, Franck Boralevi, et al.
The Journal of Molecular Diagnostics : JMD
|
February 19, 2026
High-yield DNA-based neurofibromatosis type 1 diagnostics reveals population-specific mutation landscape in 1,917 Koreans
Jaeryuk Kim, Gu-Hwan Kim, Soojin Hwang, et al.
Journal of Medical Genetics
|
July 1, 2017
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
Beom Hee Lee, Aneel Aggarwal, Anne Slavotinek, et al.
Neurology
|
January 12, 2022
Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis
Jisun Hwang, Hee Mang Yoon, Beom Hee Lee, et al.
Medicine
|
February 9, 2017
Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease
Eungu Kang, Yoon-Myung Kim, Dae-Hee Kim, et al.
Medicine
|
March 13, 2026
Caregiver quality of life and burden in rare genetic diseases in South Korea
Sunyoung Choi, Ja Hye Kim, Gu-Hwan Kim, et al.
Metabolic Brain Disease
|
March 26, 2013
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant
Seung Jin Kim, Beom Hee Lee, Yoo-Mi Kim, et al.
Frontiers in Endocrinology
|
September 25, 2023
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome
Anna Go, Beom Hee Lee, Jin-Ho Choi, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Identification of the mechanism underlying a human chimera by SNP array analysis
So Youn Shin, Han-Wook Yoo, Beom Hee Lee, et al.
Genes
|
November 19, 2020
Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, et al.
Page
of 20