Works about HUMAN phenotype
Results: 1303
Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.
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- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07797-3
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- Publication type:
- Article
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1 : An Italian Cohort Study.
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- Genes, 2025, v. 16, n. 2, p. 227, doi. 10.3390/genes16020227
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- Publication type:
- Article
Symptoms-Based Phenotypes Among Women With Dysmenorrhea: A Latent Class Analysis.
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- Western Journal of Nursing Research, 2018, v. 40, n. 10, p. 1452, doi. 10.1177/0193945917731778
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- Publication type:
- Article
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
Outgrowth, proliferation, viability, angiogenesis and phenotype of primary human endothelial cells in different purchasable endothelial culture media: feed wisely.
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- Histochemistry & Cell Biology, 2019, v. 152, n. 5, p. 377, doi. 10.1007/s00418-019-01815-2
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- Article
Prevalence of Bombay Phenotype (Oh) among Bangladeshi Population.
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- 2022
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- Publication type:
- Letter to the Editor
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
Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06990-0
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- Publication type:
- Article
Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
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- Human Genetics, 2022, v. 141, n. 11, p. 1749, doi. 10.1007/s00439-022-02449-6
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- Publication type:
- Article
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
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- Human Genetics, 2021, v. 140, n. 12, p. 1665, doi. 10.1007/s00439-021-02343-7
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- Publication type:
- Article
ASTL is mutated in female infertility.
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- Human Genetics, 2022, v. 141, n. 1, p. 49, doi. 10.1007/s00439-021-02388-8
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- Publication type:
- Article
Fondness for sugars of enteric viruses confronts them with human glycans genetic diversity.
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- Human Genetics, 2020, v. 139, n. 6/7, p. 903, doi. 10.1007/s00439-019-02090-w
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- Publication type:
- Article
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
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- Human Genetics, 2020, v. 139, n. 5, p. 615, doi. 10.1007/s00439-020-02144-4
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- Publication type:
- Article
Discovery of shared genomic loci using the conditional false discovery rate approach.
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- Human Genetics, 2020, v. 139, n. 1, p. 85, doi. 10.1007/s00439-019-02060-2
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- Publication type:
- Article
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
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- Human Genetics, 2019, v. 138, n. 1, p. 93, doi. 10.1007/s00439-018-01967-6
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- Publication type:
- Article
The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans.
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- Human Genetics, 2019, v. 138, n. 1, p. 49, doi. 10.1007/s00439-018-1964-2
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- Publication type:
- Article
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.
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- Human Genetics, 2019, v. 138, n. 1, p. 83, doi. 10.1007/s00439-018-1962-4
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- Publication type:
- Article
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
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- Human Genetics, 2018, v. 137, n. 3, p. 265, doi. 10.1007/s00439-018-1879-y
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- Publication type:
- Article
NAT1 genotypic and phenotypic contribution to urinary bladder cancer risk: a systematic review and meta-analysis.
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- Drug Metabolism Reviews, 2018, v. 50, n. 2, p. 208, doi. 10.1080/03602532.2017.1415928
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- Publication type:
- Article
Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot.
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- PeerJ, 2020, p. 1, doi. 10.7717/peerj.8422
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- Publication type:
- Article
HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences.
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- PeerJ, 2018, p. 1, doi. 10.7717/peerj.5298
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- Publication type:
- Article
Elucidating Extracellular Matrix and Stiffness Control of Primary Human Hepatocyte Phenotype via Cell Microarrays.
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- Advanced Materials Interfaces, 2021, v. 8, n. 22, p. 1, doi. 10.1002/admi.202101284
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- Publication type:
- Article
The impact of HLA-DRB1 alleles in a Hellenic, Pediatric-Onset Multiple Sclerosis cohort: Implications on clinical and neuroimaging profile.
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- Neurological Sciences, 2024, v. 45, n. 11, p. 5405, doi. 10.1007/s10072-024-07619-0
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- Publication type:
- Article
NOVEL RET MUTATIONS IN MACEDONIAN PATIENTS WITH MEDULLARY THYROID CARCINOMA: GENOTYPE-PHENOTYPE CORRELATIONS.
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- Contributions / Prilozi (1857-9345), 2015, v. 36, n. 1, p. 93, doi. 10.1515/prilozi-2015-0034
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- Publication type:
- Article
Characteristics of Different Phenotypes of Polycystic Ovary Syndrome Based on the Rotterdam Criteria in the Croatian Population.
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- Collegium Antropologicum, 2013, v. 37, n. 2, p. 477
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- Publication type:
- Article
Polymorphisms of Vitamin D Receptor Gene in the Population of Eastern Croatia with Psoriasis vulgaris and Diabetes mellitus.
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- Collegium Antropologicum, 2012, v. 36, n. 2, p. 451
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- Publication type:
- Article
The Distribution of HLA Alleles among Children with Atopic Asthma in Croatia.
- Published in:
- Collegium Antropologicum, 2011, v. 35, n. 4, p. 1243
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- Publication type:
- Article
Hepatic and Pancreatic Glycosphingolipid Phenotypes of the Neurological Different Rat Strains.
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- Collegium Antropologicum, 2011, v. 35, p. 259
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- Publication type:
- Article
Genotype-phenotype correlation in long QT syndrome.
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- Global Cardiology Science & Practice, 2015, v. 2015, n. 2, p. 1, doi. 10.5339/gcsp.2015.26
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- Publication type:
- Article
Right ventricular mechanics in hypertrophic cardiomyopathy using feature tracking.
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- Global Cardiology Science & Practice, 2013, v. 2013, n. 2, p. 1, doi. 10.5339/gcsp.2013.25
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- Publication type:
- Article
A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-77541-0
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- Publication type:
- Article
Transcriptional profiling links unique human macrophage phenotypes to the growth of intracellular Salmonella enterica serovar Typhi.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-63588-6
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- Publication type:
- Article
Predicted genetic burden and frequency of phenotype-associated variants in the horse.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57872-8
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- Publication type:
- Article
Advances in Recapitulating Alzheimer's Disease Phenotypes Using Human Induced Pluripotent Stem Cell-Based In Vitro Models.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 552, doi. 10.3390/brainsci12050552
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- Publication type:
- Article
Comparison of the Accuracy of Epistasis and Haplotype Models for Genomic Prediction of Seven Human Phenotypes.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1478, doi. 10.3390/biom13101478
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- Publication type:
- Article
Darling: A Web Application for Detecting Disease-Related Biomedical Entity Associations with Literature Mining.
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- Biomolecules (2218-273X), 2022, v. 12, n. 4, p. 520, doi. 10.3390/biom12040520
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- Publication type:
- Article
Pathological Mechanism of a Constitutively Active Form of Stromal Interaction Molecule 1 in Skeletal Muscle.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 8, p. 1064, doi. 10.3390/biom11081064
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- Publication type:
- Article
Oxidized LDL Modify the Human Adipocyte Phenotype to an Insulin Resistant, Proinflamatory and Proapoptotic Profile.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 534, doi. 10.3390/biom10040534
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- Publication type:
- Article
Dual Role of the Alternative Reading Frame ARF Protein in Cancer.
- Published in:
- Biomolecules (2218-273X), 2019, v. 9, n. 3, p. 87, doi. 10.3390/biom9030087
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- Publication type:
- Article
EP06.12: Prospective reanalysis of unsolved prenatal exome sequencing: diagnostic yield and contribution of postnatal/post‐mortem findings.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 150, doi. 10.1002/uog.28185
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- Publication type:
- Article
OP09.02: Performance of ultrasonographic phenotype for the diagnosis of prenatal rare disorders.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 85, doi. 10.1002/uog.24000
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- Publication type:
- Article
OC05.04: Phenotypical spectrum of 4 antenatal diagnosed cases of MOPD type 1.
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 9, doi. 10.1002/uog.17593
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- Publication type:
- Article
The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.
- Published in:
- Haemophilia, 2015, v. 21, n. 5, p. 670, doi. 10.1111/hae.12645
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- Publication type:
- Article
Bioinformatic Study of Transcriptome Changes in the Mice Lumbar Spinal Cord After the 30-Day Spaceflight and Subsequent 7-Day Readaptation on Earth: New Insights Into Molecular Mechanisms of the Hypogravity Motor Syndrome.
- Published in:
- Frontiers in Pharmacology, 2019, p. 1, doi. 10.3389/fphar.2019.00747
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- Publication type:
- Article
Evaluating the Polarization of Tumor-Associated Macrophages Into M1 and M2 Phenotypes in Human Cancer Tissue: Technicalities and Challenges in Routine Clinical Practice.
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- Frontiers in Oncology, 2020, v. 9, p. 1, doi. 10.3389/fonc.2019.01512
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- Publication type:
- Article
Micronutrient Requirements and Sharing Capabilities of the Human Gut Microbiome.
- Published in:
- Frontiers in Microbiology, 2019, p. N.PAG, doi. 10.3389/fmicb.2019.01316
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- Publication type:
- Article
Donor Microbiota Composition and Housing Affect Recapitulation of Obese Phenotypes in a Human Microbiota-Associated Murine Model.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fcimb.2021.614218
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- Publication type:
- Article
Towards personalised positive psychiatry? : Commentary on "Vantage sensitivity: a framework for individual differences in response to psychological intervention".
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies.
- Published in:
- 2014
- By:
- Publication type:
- Case Study