Found: 13
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Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 98, doi. 10.1159/000454725
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- Publication type:
- Article
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1612
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- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
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- Article
NKX2.1 run‐on mutation associated to familial brain–lung–thyroid syndrome.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 114, doi. 10.1111/cge.13961
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- Article
Conservation across species identifies several transcriptional enhancers in the HEX genomic region.
- Published in:
- Molecular & Cellular Biochemistry, 2009, v. 332, n. 1/2, p. 67, doi. 10.1007/s11010-009-0175-5
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- Article
Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure.
- Published in:
- Endocrine (1355008X), 2023, v. 79, n. 2, p. 292, doi. 10.1007/s12020-022-03244-z
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- Publication type:
- Article
Somatic amplifications and deletions in genome of papillary thyroid carcinomas.
- Published in:
- Endocrine (1355008X), 2015, v. 50, n. 2, p. 453, doi. 10.1007/s12020-015-0592-z
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- Publication type:
- Article
Cyclic AMP-Response Element Modulator Inhibits the Promoter Activity of the Sodium Iodide Symporter Gene in Thyroid Cancer Cells.
- Published in:
- Thyroid, 2012, v. 22, n. 5, p. 487, doi. 10.1089/thy.2011.0360
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- Publication type:
- Article
In thyroid cancer cell lines expression of periostin gene is controlled by p73 and is not related to epigenetic marks of active transcription.
- Published in:
- Cellular Oncology (2211-3428), 2011, v. 34, n. 2, p. 131, doi. 10.1007/s13402-011-0009-9
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- Publication type:
- Article
Nucleophosmin Delocalization in Thyroid Tumour Cells.
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- Endocrine Pathology, 2011, v. 22, n. 1, p. 18, doi. 10.1007/s12022-011-9147-x
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- Article
Genomic Deletion Involving the <bold>IMMP2L</bold> Gene in Two Cases of Autism Spectrum Disorder.
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- Cytogenetic & Genome Research, 2018, v. 154, n. 4, p. 196, doi. 10.1159/000489001
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- Article
Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
- Published in:
- 2016
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- Publication type:
- Case Study
A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 3, p. 391, doi. 10.1111/cen.12032
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- Publication type:
- Article