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Annals of Laboratory Medicine
|
October 27, 2017
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
Soo Hyun Seo, So Yeon Kim, Sung Im Cho, et al.
Brain & Development
|
April 20, 2021
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs
WooJoong Kim, Jae So Cho, Young Kyu Shim, et al.
European Journal of Human Genetics : EJHG
|
July 6, 2023
The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
Man Jin Kim, Boram Kim, Heerah Lee, et al.
Investigative Ophthalmology & Visual Science
|
December 22, 2016
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR)
Soo Hyun Seo, Man Jin Kim, Sung Wook Park, et al.
Muscle & Nerve
|
September 10, 2019
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
Sun Ah Choi, Anna Cho, Soo Yeon Kim, et al.
NPJ Genomic Medicine
|
November 28, 2024
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Jong Hyeon Ahn, Jihoon G Yoon, Jaeso Cho, et al.
Annals of Clinical and Laboratory Science
|
March 3, 2021
<i>Communication:</i> Comparison of Respiratory Specimens for the Detection of SARS-CoV-2
Jee-Soo Lee, Myoung-Seock Seo, Tae-Rin Gwon, et al.
Medicine
|
July 16, 2019
Acute pulmonary thromboembolism caused by factor V Leiden mutation in South Korea: A case report
Hun Jee Choe, Koung Jin Suh, Ji Yun Lee, et al.
Journal of Medical Genetics
|
November 12, 2018
Reclassification of <i>BRCA1</i> and <i>BRCA2</i> variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
Jee-Soo Lee, Sohee Oh, Sue Kyung Park, et al.
Neurology. Genetics
|
May 23, 2024
Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.
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Search research articles
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Showing results (61-70 of 80) with videos related to
Sort By:
Page
of 8
Annals of Laboratory Medicine
|
October 27, 2017
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
Soo Hyun Seo, So Yeon Kim, Sung Im Cho, et al.
Brain & Development
|
April 20, 2021
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs
WooJoong Kim, Jae So Cho, Young Kyu Shim, et al.
European Journal of Human Genetics : EJHG
|
July 6, 2023
The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
Man Jin Kim, Boram Kim, Heerah Lee, et al.
Investigative Ophthalmology & Visual Science
|
December 22, 2016
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR)
Soo Hyun Seo, Man Jin Kim, Sung Wook Park, et al.
Muscle & Nerve
|
September 10, 2019
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
Sun Ah Choi, Anna Cho, Soo Yeon Kim, et al.
NPJ Genomic Medicine
|
November 28, 2024
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Jong Hyeon Ahn, Jihoon G Yoon, Jaeso Cho, et al.
Annals of Clinical and Laboratory Science
|
March 3, 2021
<i>Communication:</i> Comparison of Respiratory Specimens for the Detection of SARS-CoV-2
Jee-Soo Lee, Myoung-Seock Seo, Tae-Rin Gwon, et al.
Medicine
|
July 16, 2019
Acute pulmonary thromboembolism caused by factor V Leiden mutation in South Korea: A case report
Hun Jee Choe, Koung Jin Suh, Ji Yun Lee, et al.
Journal of Medical Genetics
|
November 12, 2018
Reclassification of <i>BRCA1</i> and <i>BRCA2</i> variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
Jee-Soo Lee, Sohee Oh, Sue Kyung Park, et al.
Neurology. Genetics
|
May 23, 2024
Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.
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