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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8611, doi. 10.3390/ijms22168611
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- Publication type:
- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Publication type:
- Article
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
- Published in:
- 2022
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- Publication type:
- journal article
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 940, doi. 10.1111/cge.13753
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- Publication type:
- Article
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 3, p. 1, doi. 10.1161/JAHA.123.031377
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- Publication type:
- Article
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 7, p. 1685, doi. 10.3390/cells9071685
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- Publication type:
- Article
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
- Published in:
- Genes, 2020, v. 11, n. 10, p. 1177, doi. 10.3390/genes11101177
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- Publication type:
- Article
DNA Methylation in the Diagnosis of Monogenic Diseases.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355
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- Publication type:
- Article