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Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.
- Published in:
- Nature Communications, 2016, v. 7, n. 9, p. 12792, doi. 10.1038/ncomms12792
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- Publication type:
- Article
Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
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- BMC Musculoskeletal Disorders, 2016, v. 17, p. 1, doi. 10.1186/s12891-016-1320-4
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- Publication type:
- Article
Kaposiform lymphangiomatosis effectively treated with MEK inhibition.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012324
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- Publication type:
- Article
Genetic polymorphisms and associated susceptibility to asthma.
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- International Journal of General Medicine, 2013, v. 6, p. 253, doi. 10.2147/IJGM.S28156
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- Publication type:
- Article
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 8, p. 1420, doi. 10.1002/art.42129
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- Publication type:
- Article
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.756645
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- Publication type:
- Article
Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.
- Published in:
- 2020
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- Publication type:
- journal article
NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22120-4
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- Publication type:
- Article
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09483-z
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- Publication type:
- Article
Recruitment of Activation Receptors at Inhibitory NK Cell Immune Synapses.
- Published in:
- PLoS ONE, 2008, v. 3, n. 9, p. 1, doi. 10.1371/journal.pone.0003278
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- Publication type:
- Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
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- Publication type:
- Article
Activation, coactivation, and costimulation of resting human natural killer cells.
- Published in:
- Immunological Reviews, 2006, v. 214, n. 1, p. 73, doi. 10.1111/j.1600-065X.2006.00457.x
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- Publication type:
- Article
Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism.
- Published in:
- Journal of Crohn's & Colitis, 2020, v. 14, n. 5, p. 646, doi. 10.1093/ecco-jcc/jjz213
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- Publication type:
- Article
The Role of Autophagy in Skeletal Muscle Diseases.
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.638983
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- Publication type:
- Article
A signaling network stimulated by β<sub>2</sub> integrin promotes the polarization of lytic granules in cytotoxic cells.
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- Science Signaling, 2014, v. 7, n. 346, p. 1, doi. 10.1126/scisignal.2005629
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- Publication type:
- Article
Target Genes of Autism Risk Loci in Brain Frontal Cortex.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00707
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- Publication type:
- Article
Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00181
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- Publication type:
- Article
Roles of Lck, Syk and ZAP-70 tyrosine kinases in TCR-mediated phosphorylation of the adapter protein Shc.
- Published in:
- European Journal of Immunology, 1998, v. 28, n. 8, p. 2265, doi. 10.1002/(SICI)1521-4141(199808)28:08<2265::AID-IMMU2265>3.0.CO;2-P
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- Publication type:
- Article
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3233, doi. 10.1093/hmg/ddy218
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- Publication type:
- Article
Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1808, doi. 10.1002/ajmg.a.62715
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- Publication type:
- Article
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 463, doi. 10.1002/ajmg.a.62537
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- Publication type:
- Article
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
- Published in:
- Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0053-z
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- Publication type:
- Article
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01195-5
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- Publication type:
- Article