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Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.
- Published in:
- 2008
- By:
- Publication type:
- journal article
NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis.
- Published in:
- Scientific Reports, 2016, p. 22745, doi. 10.1038/srep22745
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- Publication type:
- Article
Centrosomal Localization of the Psoriasis Candidate Gene Product, CCHCR1, Supports a Role in Cytoskeletal Organization.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049920
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- Publication type:
- Article
The mutation spectrum in RECQL4 diseases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154
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- Publication type:
- Article
Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4810-y
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- Publication type:
- Article
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2837, doi. 10.1093/hmg/ddg306
- By:
- Publication type:
- Article
Gene expression analysis of skin grafts and cultured keratinocytes using synthetic RNA normalization reveals insights into differentiation and growth control.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1671-5
- By:
- Publication type:
- Article
Gene expression analysis of skin grafts and cultured keratinocytes using synthetic RNA normalization reveals insights into differentiation and growth control.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 476, doi. 10.1186/s12864-015-1671-5
- By:
- Publication type:
- Article