- Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
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Kim YE, Ki CS, Jang MA
- KMID: 2450963
- Ann Lab Med.
- 2019 Nov;39(6):606-606.
- doi: 10.3343/alm.2019.39.6.606
This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article. -
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- Delayed Diagnosis of Atypical Mowat-Wilson Syndrome
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Jang MA, Jung YJ, Jin DK, Lee J, Cho EH, Jang JH, Ki CS
- KMID: 2160084
- Lab Med Online.
- 2016 Apr;6(2):57-59.
- doi: 10.3343/lmo.2016.6.2.57
No abstract available. -
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- Correspondence: Response to “Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Geneticsâ€
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Jang MA, Han EA, Shin HB, Lee YK
- KMID: 2438894
- Ann Lab Med.
- 2019 Jul;39(4):419-420.
- doi: 10.3343/alm.2019.39.4.419
No abstract available. -
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- Low-level somatic JAK2 V617F mutation in myelodysplastic/ myeloproliferative neoplasm with ring sideroblasts, and thrombocytosis with co-mutated SF3B1 and CALR
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Ji YS, Park SK, Jeon BR, Jang MA
- KMID: 2533253
- Blood Res.
- 2022 Sep;57(3):239-241.
- doi: 10.5045/br.2022.2022105
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- A rare case of pediatric immune thrombocytopenia with secondary antiphospholipid syndrome in Korea
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Ji YS, Park SK, Jeon BR, Jang MA
- KMID: 2533254
- Blood Res.
- 2022 Sep;57(3):241-243.
- doi: 10.5045/br.2022.2022074
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- The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
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Park S, Jeon BR, Lee YK, Ki CS, Jang MA
- KMID: 2502578
- Ann Lab Med.
- 2020 Sep;40(5):435-437.
- doi: 10.3343/alm.2020.40.5.435
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- Induction of Humoral Immue Response in Mice by Wild and Mutant Type HBV Core DNA Vaccination
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Yoon SJ, Lee YS, Gwon TG, Bae JH, Jang MA, Choi YJ, Kim YH, Seo MH, Seo SI, Baek WG, Choi BG, Park JW
- KMID: 1573069
- Korean J Immunol.
- 2000 Sep;22(3):149-156.
No abstract available. -
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- A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy
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Park YN, Jang MA, Park S
- KMID: 2470593
- Ann Child Neurol.
- 2019 Dec;27(4):152-154.
- doi: 10.26815/acn.2019.00199
No abstract available. -
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- Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome
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Park S, Hur YJ, Yoon JS, Jang MA
- KMID: 2548668
- Ann Child Neurol.
- 2022 Jan;30(1):31-34.
- doi: 10.26815/acn.2021.00486
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- Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy
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Jang MA, Jung CW, Jung CW
- KMID: 1707240
- Ann Lab Med.
- 2013 Jul;33(4):297-299.
- doi: 10.3343/alm.2013.33.4.297
No abstract available. -
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- Anti-H Antibody Showing Agglutination in the Anti-Human Globulin Phase in a Korean Patient
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Koh YE, Ryu GY, Kim YH, Jang MA, Yoon SY, Lim CS
- KMID: 2373545
- Ann Lab Med.
- 2016 May;36(3):284-286.
- doi: 10.3343/alm.2016.36.3.284
No abstract available. -
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- Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis
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Jang MA, Park S, Park JE, Kim YE, Ki CS
- KMID: 2512248
- Lab Med Online.
- 2020 Apr;10(2):165-168.
- doi: 10.3343/lmo.2020.10.2.165
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- A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis
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Lee ES, Jang MA, Kim HD, Park JE, Kim JW, Ohn YH
- KMID: 2420282
- Ann Lab Med.
- 2019 Jan;39(1):109-112.
- doi: 10.3343/alm.2019.39.1.109
No abstract available. -
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- Simultaneous Occurrence of Angioimmunoblastic T-cell Lymphoma and Plasma Cell Leukemia
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Jang MA, Lee ST, Kim HJ, Kim S, Kim SH
- KMID: 2363165
- Ann Lab Med.
- 2015 Jan;35(1):149-151.
- doi: 10.3343/alm.2015.35.1.149
No abstract available. -
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- Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
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Jang MA, Kim OH, Kim SW, Ki CS
- KMID: 2363219
- Ann Lab Med.
- 2015 May;35(3):387-389.
- doi: 10.3343/alm.2015.35.3.387
No abstract available. -
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- Effect of Accreditation on the Accuracy of Diagnostic Hematologic Tests: Standard Deviation Index Analysis
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Yoon YA, Jang MA, Lee JS, Min WK, Kwon KC, Lee YW, Lee YK
- KMID: 2397606
- Ann Lab Med.
- 2018 Jan;38(1):67-70.
- doi: 10.3343/alm.2018.38.1.67
No abstract available. -
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- First Report on Familial Hemophagocytic Lymphohistiocytosis with an Abnormal Immunophenotype and T Cell Monoclonality in Korea
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Shin SY, Lee K, Jang MA, Lee ST, Yoo KH, Koo HH, Kim DS, Kim HJ, Kim SH
- KMID: 2363167
- Ann Lab Med.
- 2015 Jan;35(1):155-158.
- doi: 10.3343/alm.2015.35.1.155
No abstract available. -
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- The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality
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Choi R, Jang MA, Yoo KH, Lee ST, Kim HJ, Kim SH
- KMID: 2129577
- Ann Lab Med.
- 2014 Nov;34(6):478-480.
- doi: 10.3343/alm.2014.34.6.478
No abstract available. -
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- A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
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Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS
- KMID: 2419131
- Yonsei Med J.
- 2017 May;58(3):672-675.
- doi: 10.3349/ymj.2017.58.3.672
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by... -
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- Major Changes to the 2017 Revision of the World Health Organization Classification of Myeloproliferative Neoplasms
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Jang MA
- KMID: 2435071
- Korean J Med.
- 2018 Aug;93(4):351-359.
- doi: 10.3904/kjm.2018.93.4.351
The World Health Organization (WHO) Classification of Tumors of Haematopoietic and Lymphoid Tissues was recently published in a revised fourth edition. The categories of myeloproliferative neoplasms (MPNs) have not significantly... -
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