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Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 9, doi. 10.1007/s00439-002-0753-z
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- Publication type:
- Article
Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies.
- Published in:
- Human Heredity, 2008, v. 65, n. 1, p. 9, doi. 10.1159/000106058
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- Publication type:
- Article
PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis.
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- Current Oncology, 2023, v. 30, n. 5, p. 5135, doi. 10.3390/curroncol30050388
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- Publication type:
- Article
Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.
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- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-04923-3
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- Publication type:
- Article
Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 1, p. 1, doi. 10.1371/journal.pgen.1001281
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- Publication type:
- Article
Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 1, p. 209, doi. 10.1111/cge.13639
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- Publication type:
- Article
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
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- Publication type:
- Article
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0745-7
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- Publication type:
- Article
High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis.
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004654
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- Publication type:
- Article
EDA2R Is Associated with Androgenetic Alopecia.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 9, p. 2268, doi. 10.1038/jid.2008.60
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- Publication type:
- Article
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 634, doi. 10.1002/ajmg.a.61052
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- Publication type:
- Article
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family.
- Published in:
- 2020
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- Publication type:
- Letter