Found: 23
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Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Prevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis.
- Published in:
- International Journal of Dermatology, 2022, v. 61, n. 3, p. 310, doi. 10.1111/ijd.15887
- By:
- Publication type:
- Article
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome.
- Published in:
- International Journal of Dermatology, 2012, v. 51, n. 9, p. 1078, doi. 10.1111/j.1365-4632.2011.05428.x
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- Publication type:
- Article
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1278198
- By:
- Publication type:
- Article
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 9, p. 490, doi. 10.1007/s10038-004-0178-8
- By:
- Publication type:
- Article
Genetic structure characterization of Chileans reflects historical immigration patterns.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 6472, doi. 10.1038/ncomms7472
- By:
- Publication type:
- Article
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 169, doi. 10.3390/genes14010169
- By:
- Publication type:
- Article
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 1027, doi. 10.3390/genes13061027
- By:
- Publication type:
- Article
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 92, doi. 10.3390/genes12010092
- By:
- Publication type:
- Article
Pathogenesis of Preeclampsia: The Genetic Component.
- Published in:
- Journal of Pregnancy, 2012, p. 1, doi. 10.1155/2012/632732
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- Publication type:
- Article
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.
- Published in:
- Journal of Neuroscience, 2019, v. 39, n. 18, p. 3561, doi. 10.1523/JNEUROSCI.1983-18.2019
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- Publication type:
- Article
Challenges for gene therapy in the financial sustainability of health systems: a scoping review.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03249-z
- By:
- Publication type:
- Article
Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners.
- Published in:
- Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.657985
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- Publication type:
- Article
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244189
- By:
- Publication type:
- Article
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 1, p. 192, doi. 10.1111/j.1651-2227.2008.01039.x
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- Publication type:
- Article
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.
- Published in:
- Jornal de Pediatria, 2015, v. 91, n. 2, p. 189, doi. 10.1016/j.jpedp.2014.07.007
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- Publication type:
- Article
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 14, p. 1250, doi. 10.1093/hmg/ddae060
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- Publication type:
- Article
Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3284, doi. 10.1002/ajmg.a.62467
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- Publication type:
- Article
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2682, doi. 10.1002/ajmg.a.35525
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- Publication type:
- Article
Rare diseases in Chile: challenges and recommendations in universal health coverage context.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00275-3
- By:
- Publication type:
- Article