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Journal of Clinical Laboratory Analysis
|
December 22, 2025
Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation
Youn-Ji Hong, Misun Yang, Hyeon Jeong Kwon, et al.
Annals of Laboratory Medicine
|
February 23, 2017
Effect of Accreditation on Accuracy of Diagnostic Tests in Medical Laboratories
Mi Ae Jang, Young Ahn Yoon, Junghan Song, et al.
Journal of Human Genetics
|
March 22, 2013
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis
Mi-Ae Jang, Su-Young Kim, Byeong-Ho Jeong, et al.
Yonsei Medical Journal
|
March 24, 2017
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Youngeun Ma, Mi Ae Jang, Hye Soo Yoo, et al.
Annals of Human Genetics
|
February 4, 2015
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis
Mi-Ae Jang, Ga Yeon Lee, Kihyun Kim, et al.
The Journal of Molecular Diagnostics : JMD
|
February 1, 2024
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel
Jong Kwon Lee, Hyemi Kwon, Jong-Ho Park, et al.
Breast Cancer Research and Treatment
|
April 5, 2008
Axillary recurrence after negative sentinel lymph node biopsy
Hee Jeong Kim, Byung Ho Son, Eun Wha Park, et al.
Journal of Clinical Laboratory Analysis
|
January 18, 2024
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing
Jee Ah Kim, Mi-Ae Jang, Shin Yi Jang, et al.
Journal of Human Genetics
|
January 11, 2024
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
Changhee Ha, Darae Kim, Minjung Bak, et al.
Pediatric Neurology
|
April 12, 2012
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex
Mi-Ae Jang, Seung Bong Hong, Jee Hun Lee, et al.
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of 9
Search research articles
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Showing results (51-60 of 87) with videos related to
Sort By:
Page
of 9
Journal of Clinical Laboratory Analysis
|
December 22, 2025
Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation
Youn-Ji Hong, Misun Yang, Hyeon Jeong Kwon, et al.
Annals of Laboratory Medicine
|
February 23, 2017
Effect of Accreditation on Accuracy of Diagnostic Tests in Medical Laboratories
Mi Ae Jang, Young Ahn Yoon, Junghan Song, et al.
Journal of Human Genetics
|
March 22, 2013
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis
Mi-Ae Jang, Su-Young Kim, Byeong-Ho Jeong, et al.
Yonsei Medical Journal
|
March 24, 2017
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Youngeun Ma, Mi Ae Jang, Hye Soo Yoo, et al.
Annals of Human Genetics
|
February 4, 2015
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis
Mi-Ae Jang, Ga Yeon Lee, Kihyun Kim, et al.
The Journal of Molecular Diagnostics : JMD
|
February 1, 2024
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel
Jong Kwon Lee, Hyemi Kwon, Jong-Ho Park, et al.
Breast Cancer Research and Treatment
|
April 5, 2008
Axillary recurrence after negative sentinel lymph node biopsy
Hee Jeong Kim, Byung Ho Son, Eun Wha Park, et al.
Journal of Clinical Laboratory Analysis
|
January 18, 2024
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing
Jee Ah Kim, Mi-Ae Jang, Shin Yi Jang, et al.
Journal of Human Genetics
|
January 11, 2024
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
Changhee Ha, Darae Kim, Minjung Bak, et al.
Pediatric Neurology
|
April 12, 2012
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex
Mi-Ae Jang, Seung Bong Hong, Jee Hun Lee, et al.
Page
of 9