Suchergebnisse - "Seong, Moon-Woo"

PubPharm (52)

1

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

2

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

3

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

4

Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia

enthalten in: Cancer genetics | 2023

von Kim, Y. | Kim, B. | Seong, M. | +5

5

A case of donor cell leukemia driven by a de novo NRAS mutation with complex karyotype

enthalten in: Annals of hematology | 2023

von Jeong, D. | Gu, J. | Seo, M. | +5

6

A Novel Missense PRKAR1A Variant Causes Carney Complex

enthalten in: Endocrinology and metabolism (Seoul, Korea) | 2022

von Kim, B. | Jang, H. | Chae, K. | +5

7

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

enthalten in: Annals of laboratory medicine | 2022

von Lee, Y. | Park, H. | Kang, H. | +8

8

SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2021

von Woo, K. | Yoo, D. | Lee, J. | +4

9

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy

enthalten in: Molecular genetics & genomic medicine | 2021

von Park, J. | Ko, J. | Kim, M. | +5

10

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

enthalten in: Yonsei medical journal | 2021

von Lee, J. | Park, H. | Seong, M. | +2

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