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Annals of Laboratory Medicine
|
June 30, 2023
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
Heerah Lee, Jung Ae Lee, Hyesu Lee, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 16, 2021
SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia
Kyung Ah Woo, Dallah Yoo, Jee-Young Lee, et al.
Annals of Clinical and Translational Neurology
|
November 27, 2021
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Seondeuk Kim, Man Jin Kim, Hyoshin Son, et al.
Annals of Laboratory Medicine
|
October 12, 2021
SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species
Young-Gon Kim, Kiwook Jung, Seunghwan Kim, et al.
Journal of Movement Disorders
|
September 8, 2020
Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, et al.
Annals of Laboratory Medicine
|
February 4, 2021
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome
Hyunjung Gu, Man Jin Kim, Dahae Yang, et al.
Journal of Human Genetics
|
August 6, 2021
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population
Young-Gon Kim, Hobin Sung, Ho Seob Shin, et al.
Journal of Korean Medical Science
|
May 31, 2019
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Min Seok Kim, Kwangsic Joo, Moon Woo Seong, et al.
Journal of Korean Medical Science
|
September 10, 2019
Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Min Seok Kim, Kwangsic Joo, Moon Woo Seong, et al.
Diagnostic Microbiology and Infectious Disease
|
February 20, 2019
Evaluation of the new Abbott Real-Time EBV assay: fully automated quantification of EBV in whole blood by targeting BLLF1
Jee-Soo Lee, Mihye Yoon, Man Jin Kim, et al.
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Search research articles
Search
Showing results (11-20 of 95) with videos related to
Sort By:
Page
of 10
Annals of Laboratory Medicine
|
June 30, 2023
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
Heerah Lee, Jung Ae Lee, Hyesu Lee, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 16, 2021
SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia
Kyung Ah Woo, Dallah Yoo, Jee-Young Lee, et al.
Annals of Clinical and Translational Neurology
|
November 27, 2021
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Seondeuk Kim, Man Jin Kim, Hyoshin Son, et al.
Annals of Laboratory Medicine
|
October 12, 2021
SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species
Young-Gon Kim, Kiwook Jung, Seunghwan Kim, et al.
Journal of Movement Disorders
|
September 8, 2020
Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, et al.
Annals of Laboratory Medicine
|
February 4, 2021
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome
Hyunjung Gu, Man Jin Kim, Dahae Yang, et al.
Journal of Human Genetics
|
August 6, 2021
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population
Young-Gon Kim, Hobin Sung, Ho Seob Shin, et al.
Journal of Korean Medical Science
|
May 31, 2019
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Min Seok Kim, Kwangsic Joo, Moon Woo Seong, et al.
Journal of Korean Medical Science
|
September 10, 2019
Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Min Seok Kim, Kwangsic Joo, Moon Woo Seong, et al.
Diagnostic Microbiology and Infectious Disease
|
February 20, 2019
Evaluation of the new Abbott Real-Time EBV assay: fully automated quantification of EBV in whole blood by targeting BLLF1
Jee-Soo Lee, Mihye Yoon, Man Jin Kim, et al.
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of 10