Found: 10
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Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1327, doi. 10.1038/ejhg.2014.25
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- Article
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 3, p. 135, doi. 10.1159/000438776
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- Article
Copy Number Variations and Cognitive Phenotypes in Unselected Populations.
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- JAMA: Journal of the American Medical Association, 2015, v. 313, n. 20, p. 2044, doi. 10.1001/jama.2015.4845
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- Article
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.881100
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- Article
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936131
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- Article
Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.
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- JAMA Ophthalmology, 2023, v. 141, n. 2, p. 449, doi. 10.1001/jamaophthalmol.2023.0706
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- Article
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
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- Cancers, 2023, v. 15, n. 14, p. 3663, doi. 10.3390/cancers15143663
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- Article
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0028-0
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- Publication type:
- Article
De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders.
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- Journal of Child Neurology, 2014, v. 29, n. 12, p. NP202, doi. 10.1177/0883073813511300
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- Article
C14orf132 gene is possibly related to extremely low birth weight.
- Published in:
- BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0439-5
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- Article