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Repeated Intrathecal Mesenchymal Stem Cells for Amyotrophic Lateral Sclerosis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Comparison between DiaPlexQ™ STI6 and GeneFinder™ STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutant Enrichment with 3'-Modified Oligonucleotides (MEMO)-Quantitative PCR for Detection of NPM1 Mutations in Acute Myeloid Leukemia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
De NovoSCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.
- Published in:
- 2010
- By:
- Publication type:
- journal article
14‐1: An Automatic Panel Design Using AI‐Based Design Optimization and Standard Design.
- Published in:
- SID Symposium Digest of Technical Papers, 2023, v. 54, n. 1, p. 166, doi. 10.1002/sdtp.16515
- By:
- Publication type:
- Article
Genomic Analysis of Korean Patient With Microcephaly.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.543528
- By:
- Publication type:
- Article
Novel interleukin 1β polymorphism increased the risk of gastric cancer in a Korean population.
- Published in:
- Journal of Gastroenterology, 2004, v. 39, n. 5, p. 429, doi. 10.1007/s00535-003-1315-4
- By:
- Publication type:
- Article
PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 254, doi. 10.1159/000527524
- By:
- Publication type:
- Article
A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genetic screening of ANXA11 in Korean patients with Frontotemporal dementia syndrome.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.076426
- By:
- Publication type:
- Article
Genetic screening of ANXA11 in Korean patients with Frontotemporal dementia syndrome.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.076426
- By:
- Publication type:
- Article
P2‐122: ANALYSIS OF DEMENTIA‐RELATED GENE VARIANTS IN APOE ε4 NONCARRYING KOREAN PATIENTS WITH EARLY‐ONSET ALZHEIMER'S DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P619, doi. 10.1016/j.jalz.2019.06.2529
- By:
- Publication type:
- Article
Structural Characteristics and Properties of Cocoon and Regenerated Silk Fibroin from Different Silkworm Strains.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4965, doi. 10.3390/ijms24054965
- By:
- Publication type:
- Article
Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5629, doi. 10.3390/ijms21165629
- By:
- Publication type:
- Article
Invasive Fungal Sinusitis by Lasiodiplodia theobromae in an Patient with Aplastic Anemia: An Extremely Rare Case Report and Literature Review.
- Published in:
- Mycopathologia, 2016, v. 181, n. 11/12, p. 901, doi. 10.1007/s11046-016-0062-z
- By:
- Publication type:
- Article
Incidence and clinical features of herpes simplex viruses (1 and 2) and varicella-zoster virus infections in an adult Korean population with aseptic meningitis or encephalitis.
- Published in:
- Journal of Medical Virology, 2014, v. 86, n. 6, p. 957, doi. 10.1002/jmv.23920
- By:
- Publication type:
- Article
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1671, doi. 10.3390/jcm9061671
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- Publication type:
- Article
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1376
- 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
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 3, p. 150, doi. 10.1038/jhg.2012.148
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- Publication type:
- Article
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 6, p. 398, doi. 10.1038/jhg.2012.42
- By:
- Publication type:
- Article
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 222, doi. 10.1038/jhg.2012.13
- By:
- Publication type:
- Article
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 212, doi. 10.1038/jhg.2011.139
- By:
- Publication type:
- Article
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 139, doi. 10.1038/jhg.2011.144
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- Publication type:
- Article
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 52, doi. 10.1038/jhg.2011.130
- By:
- Publication type:
- Article
Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 8, p. 698, doi. 10.1007/s10038-007-0173-y
- By:
- Publication type:
- Article
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
Evaluation of mutation profiling by matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry in fine needle aspirations from papillary thyroid cancer.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2014, v. 52, n. 7, p. e139, doi. 10.1515/cclm-2013-1007
- By:
- Publication type:
- Article
ASO Visual Abstract: Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status.
- Published in:
- 2023
- By:
- Publication type:
- Abstract
Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status.
- Published in:
- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2023, v. 30, n. 5, p. 2916, doi. 10.1245/s10434-022-13089-5
- By:
- Publication type:
- Article
Age-associated mortality is partially mediated by TERT promoter mutation status in differentiated thyroid carcinoma.
- Published in:
- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0294145
- By:
- Publication type:
- Article
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2788, doi. 10.1002/ajmg.a.61828
- By:
- Publication type:
- Article
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 509, doi. 10.1002/ajmg.a.35298
- By:
- Publication type:
- Article
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1462, doi. 10.1002/ajmg.a.35357
- By:
- Publication type:
- Article
A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 989, doi. 10.1002/ajmg.a.34392
- By:
- Publication type:
- Article
The distribution and clinical impact of apolipoprotein e4 among patients with subjective memory impairment and early mild cognitive impairment.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P658, doi. 10.1016/j.jalz.2015.06.967
- By:
- Publication type:
- Article
Refining Dynamic Risk Stratification and Prognostic Groups for Differentiated Thyroid Cancer With TERT Promoter Mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Effect of Matrix Stiffness and Hepatocyte Growth Factor on Small Cell Lung Cancer Cells in Decellularized Extracellular Matrix‐Based Hydrogels.
- Published in:
- Macromolecular Bioscience, 2024, v. 24, n. 3, p. 1, doi. 10.1002/mabi.202300356
- By:
- Publication type:
- Article
Successful therapeutic plasma exchange in a 3.2-kg body weight neonate with atypical hemolytic uremic syndrome.
- Published in:
- Journal of Clinical Apheresis, 2011, v. 26, n. 3, p. 162, doi. 10.1002/jca.20283
- By:
- Publication type:
- Article
Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.
- Published in:
- Brain & Behavior, 2019, v. 9, n. 7, p. N.PAG, doi. 10.1002/brb3.1337
- By:
- Publication type:
- Article
Clinical Significance of Mycobacterium kansasii Isolates from Respiratory Specimens.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139621
- By:
- Publication type:
- Article
Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130663
- By:
- Publication type:
- Article
Spectrum of Cognitive Impairment in Korean ALS Patients without Known Genetic Mutations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087163
- By:
- Publication type:
- Article
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel <i>POU4F3</i> Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15).
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079063
- By:
- Publication type:
- Article