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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
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- Article
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
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- Article
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
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- Molecular Syndromology, 2016, v. 7, n. 6, p. 344, doi. 10.1159/000450971
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- Article
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00149
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- Article
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
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- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2177, doi. 10.1093/hmg/ddx078
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- Article
Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2170, doi. 10.1002/ajmg.a.61305
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- Article
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1747, doi. 10.1002/ajmg.a.38257
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- Article
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 938, doi. 10.1002/ajmg.a.38101
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- Publication type:
- Article