Found: 23
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Notch Signaling Regulation in Autoinflammatory Diseases.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8847, doi. 10.3390/ijms21228847
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- Publication type:
- Article
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1926
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- Publication type:
- Article
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1060547
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- Publication type:
- Article
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
- Published in:
- Pediatric Rheumatology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12969-020-00447-4
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- Publication type:
- Article
Could the MED13 mutations manifest as a Kabuki‐like syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 584, doi. 10.1002/ajmg.a.61994
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- Publication type:
- Article
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 461, doi. 10.1002/ajmg.a.34398
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- Publication type:
- Article
Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa.
- Published in:
- Frontiers in Microbiology, 2021, v. 12, p. 1, doi. 10.3389/fmicb.2021.795217
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- Publication type:
- Article
New Tools for Congenital Hyperinsulinism.
- Published in:
- 2021
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- Publication type:
- Case Study
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 9, p. 5406, doi. 10.3390/ijerph19095406
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- Publication type:
- Article
Identification of a New Mutation in RSK2 , the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1105, doi. 10.3390/brainsci11081105
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- Publication type:
- Article
Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset.
- Published in:
- Cancers, 2019, v. 11, n. 4, p. 483, doi. 10.3390/cancers11040483
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- Publication type:
- Article
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280
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- Publication type:
- Article
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 8, p. 585, doi. 10.1038/sj.ejhg.5201009
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- Publication type:
- Article
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.
- Published in:
- PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0247603
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- Publication type:
- Article
Genomic instability in congenital lung malformations in children.
- Published in:
- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05835-5
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- Publication type:
- Article
A loss‐of‐function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
- Published in:
- Experimental Dermatology, 2023, v. 32, n. 11, p. 1935, doi. 10.1111/exd.14919
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- Publication type:
- Article
Whole-Genome Methylation Study of Congenital Lung Malformations in Children.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.689833
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- Publication type:
- Article
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1192690
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- Publication type:
- Article
32 Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0120-0
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- Publication type:
- Article
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
- Published in:
- 2022
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- Publication type:
- journal article
Dysregulation of Aquaporin-3 and Glyceryl Glucoside Restoring Action in Hidradenitis Suppurativa in Vitro Models.
- Published in:
- Cellular Physiology & Biochemistry (Cell Physiol Biochem Press GmbH & Co. KG), 2024, v. 58, n. 4, p. 404, doi. 10.33594/000000720
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- Publication type:
- Article
Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A*03:01 allele.
- Published in:
- HLA: Immune Response Genetics, 2023, v. 102, n. 6, p. 707, doi. 10.1111/tan.15157
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- Publication type:
- Article
Unraveling the Epigenetic Tapestry: Decoding the Impact of Epigenetic Modifications in Hidradenitis Suppurativa Pathogenesis.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 38, doi. 10.3390/genes15010038
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- Publication type:
- Article