Found: 11
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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
Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum.
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- Orthodontics & Craniofacial Research, 2021, v. 24, n. 4, p. 575, doi. 10.1111/ocr.12483
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- Article
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.
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- Clinical Ophthalmology, 2007, v. 1, n. 2, p. 183
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- Article
Auriculo-condylar syndrome. Confronting a diagnostic challenge.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 59, doi. 10.1002/ajmg.a.34337
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- Article
Identification of a de novo PUF60 variant associated with craniofacial microsomia.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63631
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- Article
Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2493, doi. 10.1002/ajmg.a.63319
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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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- Article
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2003, doi. 10.1002/ajmg.a.35454
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- Article