Found: 20
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Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.
- Published in:
- ESC Heart Failure, 2019, v. 6, n. 2, p. 406, doi. 10.1002/ehf2.12410
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- Publication type:
- Article
Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.
- Published in:
- Scientific Reports, 2015, p. 12028, doi. 10.1038/srep12028
- By:
- Publication type:
- Article
Response to "Genetics of Periodontitis without Bias".
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Identification of genetic risk factors of aggressive periodontitis using genomewide association studies in association with those of chronic periodontitis.
- Published in:
- Journal of Periodontal Research, 2019, v. 54, n. 3, p. 199, doi. 10.1111/jre.12620
- By:
- Publication type:
- Article
The Influence of LPS-Induced Maternal Inflammation on Postnatal Collagen-Induced Arthritis.
- Published in:
- Inflammation, 2018, v. 41, n. 5, p. 1842, doi. 10.1007/s10753-018-0827-2
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- Publication type:
- Article
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
- Published in:
- Internal Medicine, 2022, v. 61, n. 23, p. 3589, doi. 10.2169/internalmedicine.9221-21
- By:
- Publication type:
- Article
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
- Published in:
- 2020
- By:
- Publication type:
- letter
A Mild Transient Decrease of Peripheral Red Blood Cell Counts Induced by a Suprapharmacological Dose of Pegylated Human Megakaryocyte Growth and Development Factor in Rats.
- Published in:
- Journal of Pharmacy & Pharmacology, 1999, v. 51, n. 7, p. 841, doi. 10.1211/0022357991773041
- By:
- Publication type:
- Article
Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 12, p. 2010, doi. 10.1093/ndt/gfx083
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- Publication type:
- Article
Leveling the Playing Field in Homozygosity Mapping Using Map Distances.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 5, p. 366, doi. 10.1111/ahg.12125
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- Publication type:
- Article
Quantitative Analysis of Coronary Vessels with Optimized Intracoronary CT Number.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085312
- By:
- Publication type:
- Article
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1143, doi. 10.1002/jimd.12547
- By:
- Publication type:
- Article
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 819, doi. 10.1002/jimd.12218
- By:
- Publication type:
- Article
Heterozygosity mapping for human dominant trait variants.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 996, doi. 10.1002/humu.23765
- By:
- Publication type:
- Article
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1796, doi. 10.1002/humu.23298
- By:
- Publication type:
- Article
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 1, p. 173, doi. 10.1093/hmg/ddw377
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- Publication type:
- Article
Ultrasonic appearance of secondary amyloidosis involving the stomach in rheumatoid arthritis.
- Published in:
- 1991
- By:
- Publication type:
- journal article
Coronary computed tomography angiography using ultra-low-dose contrast media: radiation dose and image quality.
- Published in:
- International Journal of Cardiovascular Imaging, 2013, v. 29, n. 6, p. 1335, doi. 10.1007/s10554-013-0201-2
- By:
- Publication type:
- Article
A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1427
- By:
- Publication type:
- Article
A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160765
- By:
- Publication type:
- Article