Found: 9
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Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
- By:
- Publication type:
- Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06602
- By:
- Publication type:
- Article
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
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- Publication type:
- Article
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.pgen.1007104
- By:
- Publication type:
- Article
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181604
- By:
- Publication type:
- Article