Found: 14
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De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 24, doi. 10.1159/000452258
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- Publication type:
- Article
Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.
- Published in:
- Neonatology (16617800), 2019, v. 116, n. 3, p. 290, doi. 10.1159/000499488
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- Publication type:
- Article
National data on the early clinical use of non‐invasive prenatal testing in public and private healthcare in Denmark 2013–2017.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 5, p. 884, doi. 10.1111/aogs.14052
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- Publication type:
- Article
A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?
- Published in:
- 2020
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- Publication type:
- journal article
Insight Into Individual Differences in Emotion Dynamics With Clustering.
- Published in:
- Assessment, 2021, v. 28, n. 4, p. 1186, doi. 10.1177/1073191119873714
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- Publication type:
- Article
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A phylogeny of the genus Limia (Teleostei: Poeciliidae) suggests a single-lake radiation nested in a Caribbean-wide allopatric speciation scenario.
- Published in:
- BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05843-x
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- Publication type:
- Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
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- Publication type:
- Article
Feasibility and early clinical impact of precision medicine for late-stage cancer patients in a regional public academic hospital.
- Published in:
- Acta Oncologica, 2023, v. 62, n. 3, p. 261, doi. 10.1080/0284186X.2023.2185542
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- Publication type:
- Article
A Danish national effort of BRCA1/2 variant classification.
- Published in:
- Acta Oncologica, 2018, v. 57, n. 1, p. 159, doi. 10.1080/0284186X.2017.1400693
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- Publication type:
- Article
Global evolutionary analysis of chronic hepatitis C patients revealed significant effect of baseline viral resistance, including novel non‐target sites, for DAA‐based treatment and retreatment outcome.
- Published in:
- Journal of Viral Hepatitis, 2021, v. 28, n. 2, p. 302, doi. 10.1111/jvh.13430
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- Publication type:
- Article
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 4, p. 181, doi. 10.1159/000441047
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- Publication type:
- Article
Individual differences in satisfaction with activity-based work environments.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193878
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- Publication type:
- Article
The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 82, doi. 10.1186/1471-2350-11-82
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- Publication type:
- Article