Works matching DE "HUMAN phenotype"
Results: 1296
A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.
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- Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvae221
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- Article
Better understanding the phenotypic effects of drugs through shared targets in genetic disease networks.
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- Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2024.1470931
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- Article
Genética y economía: estudios y perspectivas.
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- Economica (00130419), 2024, v. 70, p. 1, doi. 10.24215/18521649e036
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- Publication type:
- Article
How (and why) languages became more complex as we evolved more prosocial: the human self-domestication view.
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- Frontiers in Psychology, 2025, p. 1, doi. 10.3389/fpsyg.2024.1499994
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- Article
Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1.
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- 2024
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- Abstract
Association between the age and the development of colorectal cancer in patients with familial adenomatous polyposis: a multi-institutional study.
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- Surgery Today, 2017, v. 47, n. 4, p. 470, doi. 10.1007/s00595-016-1398-1
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- Article
The chronic stress risk phenotype mirrored in the human retina as a neurodegenerative condition.
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- Stress: The International Journal on the Biology of Stress, 2023, v. 26, n. 1, p. 1, doi. 10.1080/10253890.2023.2210687
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- Article
Noninvasive assessment of altered activity following restraint in mice using an automated physiological monitoring system.
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- Stress: The International Journal on the Biology of Stress, 2017, v. 20, n. 1, p. 59, doi. 10.1080/10253890.2016.1276898
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- Article
Broader Autism Phenotype and Communication Skills in Parents of Children with Autism.
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- Journal of Modern Rehabilitation, 2022, v. 16, n. 4, p. 338, doi. 10.18502/jmr.v16i4.10761
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- Article
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology.
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- Bioinformatics, 2024, v. 40, n. 7, p. 1, doi. 10.1093/bioinformatics/btae406
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- Article
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
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- Bioinformatics, 2023, v. 39, n. 12, p. 1, doi. 10.1093/bioinformatics/btad716
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- Publication type:
- Article
TIVAN-indel: a computational framework for annotating and predicting non-coding regulatory small insertions and deletions.
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- Bioinformatics, 2023, v. 39, n. 2, p. 1, doi. 10.1093/bioinformatics/btad060
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- Publication type:
- Article
phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants.
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- Bioinformatics, 2022, v. 38, n. 21, p. 4972, doi. 10.1093/bioinformatics/btac619
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- Publication type:
- Article
High-sensitivity pattern discovery in large, paired multiomic datasets.
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- Bioinformatics, 2022, v. 38, p. i378, doi. 10.1093/bioinformatics/btac232
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- Publication type:
- Article
PheneBank: a literature-based database of phenotypes.
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- Bioinformatics, 2022, v. 38, n. 4, p. 1179, doi. 10.1093/bioinformatics/btab740
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- Publication type:
- Article
HPODNets: deep graph convolutional networks for predicting human protein–phenotype associations.
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- Bioinformatics, 2022, v. 38, n. 3, p. 799, doi. 10.1093/bioinformatics/btab729
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- Publication type:
- Article
HPOFiller: identifying missing protein–phenotype associations by graph convolutional network.
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- Bioinformatics, 2021, v. 37, n. 19, p. 3328, doi. 10.1093/bioinformatics/btab224
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- Article
PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology.
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- Bioinformatics, 2021, v. 37, n. 13, p. 1884, doi. 10.1093/bioinformatics/btab019
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- Publication type:
- Article
EpiGraphDB: a database and data mining platform for health data science.
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- Bioinformatics, 2021, v. 37, n. 9, p. 1304, doi. 10.1093/bioinformatics/btaa961
- Publication type:
- Article
Strategy for improved characterization of human metabolic phenotypes using a COmbined Multi-block Principal components Analysis with Statistical Spectroscopy (COMPASS).
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- Bioinformatics, 2020, v. 36, n. 21, p. 5229, doi. 10.1093/bioinformatics/btaa649
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- Publication type:
- Article
Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR.
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- Bioinformatics, 2020, v. 36, n. 18, p. 4749, doi. 10.1093/bioinformatics/btaa568
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- Publication type:
- Article
HPOLabeler: improving prediction of human protein–phenotype associations by learning to rank.
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- Bioinformatics, 2020, v. 36, n. 14, p. 4180, doi. 10.1093/bioinformatics/btaa284
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- Article
Privacy-preserving construction of generalized linear mixed model for biomedical computation.
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- Bioinformatics, 2020, v. 36, p. i128, doi. 10.1093/bioinformatics/btaa478
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- Publication type:
- Article
DiNGO: standalone application for Gene Ontology and Human Phenotype Ontology term enrichment analysis.
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- Bioinformatics, 2020, v. 36, n. 6, p. 1981, doi. 10.1093/bioinformatics/btz836
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- Publication type:
- Article
Quantifying functional impact of non-coding variants with multi-task Bayesian neural network.
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- Bioinformatics, 2020, v. 36, n. 5, p. 1397, doi. 10.1093/bioinformatics/btz767
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- Publication type:
- Article
PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.
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- Bioinformatics, 2019, v. 35, n. 19, p. 3559, doi. 10.1093/bioinformatics/btz100
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- Publication type:
- Article
SVIM: structural variant identification using mapped long reads.
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- Bioinformatics, 2019, v. 35, n. 17, p. 2907, doi. 10.1093/bioinformatics/btz041
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- Article
Gene prioritization using Bayesian matrix factorization with genomic and phenotypic side information.
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- Bioinformatics, 2018, v. 34, n. 13, p. i447, doi. 10.1093/bioinformatics/bty289
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- Publication type:
- Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
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- Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
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- Publication type:
- Article
Transfer learning across ontologies for phenome-genome association prediction.
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- Bioinformatics, 2017, v. 33, n. 4, p. 529, doi. 10.1093/bioinformatics/btw649
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- Publication type:
- Article
GRASP: analysis of genotype–phenotype results from 1390 genome-wide association studies and corresponding open access database.
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- Bioinformatics, 2014, v. 30, n. 12, p. i185, doi. 10.1093/bioinformatics/btu273
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- Publication type:
- Article
Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data.
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- Data (2306-5729), 2024, v. 9, n. 4, p. 55, doi. 10.3390/data9040055
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- Publication type:
- Article
Atypical Presentation of Pallister--Hall Syndrome with Central Precious Puberty.
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- 2022
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- Case Study
Does polycystic ovary syndrome with phenotype D affect the cardiovascular endurance, core endurance, body awareness, and the quality of life? A prospective, controlled study.
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- Turkish Journal of Obstetrics & Gynecology, 2021, v. 18, n. 3, p. 203, doi. 10.4274/tjod.galenos.2021.72547
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- Publication type:
- Article
Serum sclerostin level and its relation to subclinical atherosclerosis in the polycystic ovary syndrome phenotypes: A prospective controlled study.
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- Turkish Journal of Obstetrics & Gynecology, 2021, v. 18, n. 3, p. 167, doi. 10.4274/tjod.galenos.2021.51436
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- Publication type:
- Article
白发形成机制及研究前景.
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- Chinese Journal of Aesthetic & Plastic Surgery, 2025, v. 36, n. 1, p. 64, doi. 10.3969/j.issn.1673-7040.2025.01.017
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- Publication type:
- Article
ANTIOXIDANTS IN PATIENTS LIVING WITH HIV ON ANTIRETROVIRALS.
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- Military Medical Science Letters / Vojenské zdravotnické Listy, 2021, v. 90, n. 2, p. 54, doi. 10.31482/mmsl.2021.005
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- Article
The nuclear receptor LXRα controls the functional specialization of splenic macrophages.
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- Nature Immunology, 2013, v. 14, n. 8, p. 831, doi. 10.1038/ni.2622
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- Publication type:
- Article
Optimisation of the Synthesis and Cell Labelling Conditions for [<sup>89</sup>Zr]Zr-oxine and [<sup>89</sup>Zr]Zr-DFO-NCS: a Direct In Vitro Comparison in Cell Types with Distinct Therapeutic Applications.
- Published in:
- Molecular Imaging & Biology, 2021, v. 23, n. 6, p. 952, doi. 10.1007/s11307-021-01622-z
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- Article
A population study of clinically actionable genetic variation affecting drug response from the Middle East.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00281-5
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- Publication type:
- Article
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00273-x
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- Publication type:
- Article
Investigations of ALS1 and HWP1 genes in clinical isolates of Candida albicans.
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- Turkish Journal of Medical Sciences, 2013, v. 43, n. 1, p. 125, doi. 10.3906/sag-1205-90
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- Publication type:
- Article
Japanese sibling cases of multiple sclerosis presenting with different clinical phenotypes.
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- Neurology & Clinical Neuroscience, 2017, v. 5, n. 6, p. 186, doi. 10.1111/ncn3.12145
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- Publication type:
- Article
Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 5, p. 460, doi. 10.1002/mdc3.12306
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- Publication type:
- Article
TCR-CD3ζ gene polymorphisms and expression profile in rheumatoid arthritis.
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- Autoimmunity, 2016, v. 49, n. 7, p. 466, doi. 10.1080/08916934.2016.1174855
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- Publication type:
- Article
The Fc receptor-like 3 gene polymorphisms and susceptibility to autoimmune diseases: An updated meta-analysis.
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- Autoimmunity, 2013, v. 46, n. 8, p. 547, doi. 10.3109/08916934.2013.835804
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- Publication type:
- Article
Human Pelvis and Long Bones Reveal Differential Preservation of Ancient Population History and Migration Out of Africa.
- Published in:
- Human Biology, 2012, v. 84, n. 2, p. 139, doi. 10.3378/027.084.0203
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- Publication type:
- Article
Association among Obesity-Related Anthropometric Phenotypes: Analyzing Genetic and Environmental Contribution.
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- Human Biology, 2012, v. 84, n. 2, p. 127, doi. 10.3378/027.084.0202
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- Publication type:
- Article
Resource Availability, Mortality, and Fertility: A Path Analytic Approach to Global Life-History Variation.
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- Human Biology, 2012, v. 84, n. 2, p. 101, doi. 10.3378/027.084.0201
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- Publication type:
- Article
Genetic and phenotypic analysis of Vibrio cholerae non-O1, non-O139 isolated from German and Austrian patients.
- Published in:
- European Journal of Clinical Microbiology & Infectious Diseases, 2014, v. 33, n. 5, p. 767, doi. 10.1007/s10096-013-2011-9
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- Publication type:
- Article