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SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Leber's Hereditary Optic Neuropathy Mutations in Korean Patients with Multiple Sclerosis.
- Published in:
- Ophthalmologica, 2001, v. 215, n. 6, p. 398, doi. 10.1159/000050896
- By:
- Publication type:
- Article
Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17958-7
- By:
- Publication type:
- Article
Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection.
- Published in:
- 2016
- By:
- Publication type:
- journal article
ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis.
- Published in:
- Journal of Neurogastroenterology & Motility, 2022, v. 28, n. 1, p. 104, doi. 10.5056/jnm20243
- By:
- Publication type:
- Article
Extramedullary relapse confirmed by fluorescence in situ hybridization study of an ear mass in acute promyelocytic leukemia.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Beta-thalassemia in the Korean population.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Excess Accumulation of Lipid Impairs Insulin Sensitivity in Skeletal Muscle.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 1949, doi. 10.3390/ijms21061949
- By:
- Publication type:
- Article
Comparative genomics of Mycoplasma pneumoniae isolated from children with pneumonia: South Korea, 2010–2016.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6306-9
- By:
- Publication type:
- Article
Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.
- Published in:
- Photodermatology, Photoimmunology & Photomedicine, 2020, v. 36, n. 5, p. 401, doi. 10.1111/phpp.12568
- By:
- Publication type:
- Article
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 6, p. e88, doi. 10.1111/ped.12442
- By:
- Publication type:
- Article
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 280, doi. 10.3343/alm.2023.43.3.280
- By:
- Publication type:
- Article
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 384, doi. 10.3343/alm.2022.42.3.384
- By:
- Publication type:
- Article
SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 2, p. 213, doi. 10.3343/alm.2022.42.2.213
- By:
- Publication type:
- Article
Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 110, doi. 10.3343/alm.2022.42.1.110
- By:
- Publication type:
- Article
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 79, doi. 10.3343/alm.2022.42.1.79
- By:
- Publication type:
- Article
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 4, p. 394, doi. 10.3343/alm.2021.41.4.394
- By:
- Publication type:
- Article
Determination of Clinical Characteristics of Mycobacterium kansasii-Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 5, p. 463, doi. 10.3343/alm.2021.41.5.463
- By:
- Publication type:
- Article
Establishment of Pediatric Reference Intervals for Routine Laboratory Tests in Korean Population: A Retrospective Multicenter Analysis.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 2, p. 155, doi. 10.3343/alm.2021.41.2.155
- By:
- Publication type:
- Article
Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea.
- Published in:
- Annals of Laboratory Medicine, 2019, v. 39, n. 6, p. 599, doi. 10.3343/alm.2019.39.6.599
- By:
- Publication type:
- Article
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 3, p. 242, doi. 10.3343/alm.2018.38.3.242
- By:
- Publication type:
- Article
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 54, doi. 10.3343/alm.2018.38.1.54
- By:
- Publication type:
- Article
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 6, p. 516, doi. 10.3343/alm.2017.37.6.516
- By:
- Publication type:
- Article
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 1, p. 42, doi. 10.1038/jhg.2013.117
- By:
- Publication type:
- Article
SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 2, p. 125, doi. 10.1038/jhg.2010.130
- By:
- Publication type:
- Article
Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 7, p. 1157, doi. 10.1515/cclm-2015-0611
- By:
- Publication type:
- Article
Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743
- By:
- Publication type:
- Article
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0306-2
- By:
- Publication type:
- Article
Increased Expression of Alpha-Synuclein by SNCA Duplication is Associated with Resistance to Toxic Stimuli.
- Published in:
- Journal of Molecular Neuroscience, 2012, v. 47, n. 2, p. 249, doi. 10.1007/s12031-012-9732-6
- By:
- Publication type:
- Article
Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.
- Published in:
- Child's Nervous System, 2008, v. 24, n. 12, p. 1499, doi. 10.1007/s00381-008-0681-x
- By:
- Publication type:
- Article
Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 4, p. 392, doi. 10.5223/pghn.2019.22.4.392
- By:
- Publication type:
- Article
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 2, p. 201, doi. 10.5223/pghn.2019.22.2.201
- By:
- Publication type:
- Article
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2016, v. 19, n. 1, p. 71, doi. 10.5223/pghn.2016.19.1.71
- By:
- Publication type:
- Article
A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma.
- Published in:
- Case Reports in Endocrinology, 2018, p. 1, doi. 10.1155/2018/8657914
- By:
- Publication type:
- Article
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
- Published in:
- Clinical & Experimental Reproductive Medicine, 2013, v. 40, n. 1, p. 42, doi. 10.5653/cerm.2013.40.1.42
- By:
- Publication type:
- Article
The Pathogenic Role of Low Range Repeats in SCA17.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135275
- By:
- Publication type:
- Article
Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
- Published in:
- Annals of Hematology, 2011, v. 90, n. 5, p. 515, doi. 10.1007/s00277-010-1102-2
- By:
- Publication type:
- Article
Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 3, p. 278, doi. 10.1007/s00415-003-0985-4
- By:
- Publication type:
- Article
Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 1, p. 87, doi. 10.1007/s00415-003-0960-0
- By:
- Publication type:
- Article
Investigation of Common Mitochondrial Point Mutations in Korea.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 339, doi. 10.1196/annals.1293.034
- By:
- Publication type:
- Article
Epidemiologic Trends of Thalassemia, 2006–2018: A Nationwide Population-Based Study.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 9, p. 2289, doi. 10.3390/jcm11092289
- By:
- Publication type:
- Article
Night‐time gastric acid suppression by tegoprazan compared to vonoprazan or esomeprazole.
- Published in:
- British Journal of Clinical Pharmacology, 2022, v. 88, n. 7, p. 3288, doi. 10.1111/bcp.15268
- By:
- Publication type:
- Article
Safety, tolerability and pharmacokinetics and pharmacodynamics of HL2351, a novel hybrid fc‐fused interleukin‐1 receptor antagonist, in healthy subjects: A first‐in‐human study.
- Published in:
- British Journal of Clinical Pharmacology, 2020, v. 86, n. 2, p. 372, doi. 10.1111/bcp.14161
- By:
- Publication type:
- Article
Thioredoxin modulates activator protein 1 (AP-1) activity and p27Kip1 degradation through direct interaction with Jab1.
- Published in:
- Oncogene, 2004, v. 23, n. 55, p. 8868, doi. 10.1038/sj.onc.1208116
- By:
- Publication type:
- Article
Communication: Comparison of Respiratory Specimens for the Detection of SARS-CoV-2.
- Published in:
- Annals of Clinical & Laboratory Science, 2021, v. 51, n. 1, p. 140
- By:
- Publication type:
- Article
Liquid biopsy in pancreatic ductal adenocarcinoma: current status of circulating tumor cells and circulating tumor DNA.
- Published in:
- Molecular Oncology, 2019, v. 13, n. 8, p. 1623, doi. 10.1002/1878-0261.12537
- By:
- Publication type:
- Article
Molecular characterization of D– Korean persons: development of a diagnostic strategy.
- Published in:
- Transfusion, 2005, v. 45, n. 3, p. 345, doi. 10.1111/j.1537-2995.2005.04311.x
- By:
- Publication type:
- Article
In vitro neutralization of hepatitis B virus by monoclonal antibodies against the viral surface antigen.
- Published in:
- Journal of Medical Virology, 1997, v. 52, n. 2, p. 226, doi. 10.1002/(SICI)1096-9071(199706)52:2<226::AID-JMV18>3.0.CO;2-I
- By:
- Publication type:
- Article
Patients diagnosed with long QT syndrome after repair of congenital heart disease.
- Published in:
- Pacing & Clinical Electrophysiology, 2018, v. 41, n. 11, p. 1435, doi. 10.1111/pace.13512
- By:
- Publication type:
- Article