Found: 13
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Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Letter
A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior.
- Published in:
- International Journal of Hematology, 2013, v. 97, n. 3, p. 403, doi. 10.1007/s12185-013-1286-z
- By:
- Publication type:
- Article
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 298, doi. 10.1038/jhg.2013.19
- By:
- Publication type:
- Article
A unique case of dendritic cell neoplasm from monocyte-derived myeloid origin with distinct immunophenotype and cytomorphology.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Gardnerella vaginalis in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 9, p. 2295, doi. 10.3390/jcm11092295
- By:
- Publication type:
- Article
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-76509-4
- By:
- Publication type:
- Article
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.
- Published in:
- Cancers, 2024, v. 16, n. 19, p. 3318, doi. 10.3390/cancers16193318
- By:
- Publication type:
- Article
Asp58Ala is the Predominant Mutation of the TTR Gene in Korean Patients with Hereditary Transthyretin-Related Amyloidosis.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 2, p. 99, doi. 10.1111/ahg.12101
- By:
- Publication type:
- Article
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing.
- Published in:
- Journal of Clinical Laboratory Analysis, 2024, v. 38, n. 1/2, p. 1, doi. 10.1002/jcla.25009
- By:
- Publication type:
- Article
Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47645-0
- By:
- Publication type:
- Article
WNT16 elevation induced cell senescence of osteoblasts in ankylosing spondylitis.
- Published in:
- Arthritis Research & Therapy, 2021, v. 23, n. 1, p. 1, doi. 10.1186/s13075-021-02670-0
- By:
- Publication type:
- Article
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179689
- By:
- Publication type:
- Article