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Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.
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- Cells (2073-4409), 2021, v. 10, n. 4, p. 749, doi. 10.3390/cells10040749
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- Article
Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning—An Analysis by RNA Sequencing.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8160, doi. 10.3390/ijms22158160
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- Article
Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 3886, doi. 10.3390/ijms22083886
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- Article
FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects.
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- Clinical Genetics, 2019, v. 96, n. 5, p. 468, doi. 10.1111/cge.13614
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- Article
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
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- Clinical Genetics, 2018, v. 94, n. 3/4, p. 381, doi. 10.1111/cge.13410
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- Article
Clinico-pathological correlation in case of BRAT1 mutation.
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- Folia Neuropathologica, 2018, v. 56, n. 4, p. 362, doi. 10.5114/fn.2018.80870
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- Article
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
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- Folia Neuropathologica, 2017, v. 55, n. 3, p. 214, doi. 10.5114/fn.2017.70486
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- Article
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
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- Diagnostics (2075-4418), 2021, v. 11, n. 7, p. 1269, doi. 10.3390/diagnostics11071269
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- Article
A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00140
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- Article
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1482, doi. 10.1002/ajmg.a.62670
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- Article