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Annals of Laboratory Medicine
|
September 11, 2015
Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing
Mi Ae Jang, Chang Woo Lee, Jin Kyung Kim, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|
September 26, 2014
A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency
Mi-Ae Jang, Sun-Hee Kim, Duk-Kyung Kim, et al.
Journal of Korean Medical Science
|
June 16, 2020
A Rare Case of Essential Thrombocythemia with Coexisting <i>JAK2</i> and <i>MPL</i> Driver Mutations
Mi Ae Jang, Mi Yeon Seo, Kyoung Jin Choi, et al.
Annals of Laboratory Medicine
|
December 29, 2015
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
Je Moon Yoon, Mi-Ae Jang, Chang-Seok Ki, et al.
Scientific Reports
|
June 1, 2026
Genetic landscape of hereditary spastic paraplegias in the Korean population
Mi-Ae Jang, Ja-Hyun Jang, Byoung Joon Kim, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|
July 9, 2014
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency
Mi-Ae Jang, Young Shil Park, Ki-O Lee, et al.
BMB Reports
|
October 13, 2022
Dikkopf-1 promotes matrix mineralization of osteoblasts by regulating Ca<sup>+</sup>-CAMK2A- CREB1 pathway
Hyosun Park, Sungsin Jo, Mi-Ae Jang, et al.
Annals of Laboratory Medicine
|
May 2, 2015
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Mi-Ae Jang, Taeheon Lee, Junnam Lee, et al.
Pediatric Neurology
|
April 16, 2013
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing
Mi-Ae Jang, Hye In Woo, Jong-Won Kim, et al.
Scientific Reports
|
July 14, 2025
Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population
Eun Hye Cho, Myoungkeun Lee, Chang-Seok Ki, et al.
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Search research articles
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Showing results (11-20 of 87) with videos related to
Sort By:
Page
of 9
Annals of Laboratory Medicine
|
September 11, 2015
Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing
Mi Ae Jang, Chang Woo Lee, Jin Kyung Kim, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|
September 26, 2014
A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency
Mi-Ae Jang, Sun-Hee Kim, Duk-Kyung Kim, et al.
Journal of Korean Medical Science
|
June 16, 2020
A Rare Case of Essential Thrombocythemia with Coexisting <i>JAK2</i> and <i>MPL</i> Driver Mutations
Mi Ae Jang, Mi Yeon Seo, Kyoung Jin Choi, et al.
Annals of Laboratory Medicine
|
December 29, 2015
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
Je Moon Yoon, Mi-Ae Jang, Chang-Seok Ki, et al.
Scientific Reports
|
June 1, 2026
Genetic landscape of hereditary spastic paraplegias in the Korean population
Mi-Ae Jang, Ja-Hyun Jang, Byoung Joon Kim, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|
July 9, 2014
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency
Mi-Ae Jang, Young Shil Park, Ki-O Lee, et al.
BMB Reports
|
October 13, 2022
Dikkopf-1 promotes matrix mineralization of osteoblasts by regulating Ca<sup>+</sup>-CAMK2A- CREB1 pathway
Hyosun Park, Sungsin Jo, Mi-Ae Jang, et al.
Annals of Laboratory Medicine
|
May 2, 2015
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Mi-Ae Jang, Taeheon Lee, Junnam Lee, et al.
Pediatric Neurology
|
April 16, 2013
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing
Mi-Ae Jang, Hye In Woo, Jong-Won Kim, et al.
Scientific Reports
|
July 14, 2025
Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population
Eun Hye Cho, Myoungkeun Lee, Chang-Seok Ki, et al.
Page
of 9