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PubPharm (338)
1
Mitochondrial DNA mutations in Korean patients with Leber's hereditary optic neuropathy
enthalten in:
Scientific reports
| 2024
von
Yang, H.
|
Seong, M.
|
Hwang, J.
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2
Comparison of Measurable Residual Disease in Pediatric B-Lymphoblastic Leukemia Using Multiparametric Flow Cytometry and Next-Generation Sequencing
enthalten in:
Annals of laboratory medicine
| 2024
von
Hwang, S.
|
Oh, I.
|
Kwon, S.
| +2
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3
Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation
enthalten in:
International journal of molecular sciences
| 2024
von
Lee, H.
|
Chae, S.
|
Cho, S.
| +3
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4
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
enthalten in:
Journal of gastroenterology and hepatology
| 2024
von
Hahn, J.
|
Lee, H.
|
Shin, M.
| +3
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5
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea
enthalten in:
Diabetes & metabolism journal
| 2024
von
Rho, E.
|
Baek, S.
|
Lee, H.
| +4
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6
Analysis of HTT CAG repeat expansion among healthy individuals and patients with chorea in Korea
enthalten in:
Parkinsonism & related disorders
| 2024
von
Kim, R.
|
Seong, M.
|
Oh, B.
| +7
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7
The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation
enthalten in:
Annals of laboratory medicine
| 2024
von
Kim, B.
|
Ahn, Y.
|
Park, J.
| +6
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8
Acral Pigmentation in Peutz-Jeghers Syndrome : Dermoscopic Findings and Treatment with the Q-Switched Nd:YAG Laser
enthalten in:
Annals of dermatology
| 2023
von
Shin, H.
|
Hur, K.
|
Lee, J.
| +2
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9
A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature
enthalten in:
Annals of dermatology
| 2023
von
Kim, J.
|
Kim, M.
|
Kim, B.
| +3
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10
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis : A Case of Shwachman-Diamond Syndrome
enthalten in:
Annals of laboratory medicine
| 2023
von
Lee, H.
|
Lee, J.
|
Lee, H.
| +4
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