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Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9649, doi. 10.3390/ijms23179649
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- Publication type:
- Article
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 1042, doi. 10.3390/ijms21031042
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- Publication type:
- Article
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 24, p. 6124, doi. 10.3390/ijms20246124
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- Article
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1826
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- Publication type:
- Article
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.
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- Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4052, doi. 10.3390/jcm12124052
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- Publication type:
- Article
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94958-z
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- Article
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.993064
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- Publication type:
- Article
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413
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- Publication type:
- Article