Found: 18
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FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4879, doi. 10.1093/hmg/ddp444
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- Publication type:
- Article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
- Published in:
- 2021
- By:
- Publication type:
- letter
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 1, p. 95, doi. 10.1038/ng.270
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- Publication type:
- Article
Bathrocephaly: A Head Shape Associated With a Persistent Mendosal Suture.
- Published in:
- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 104, doi. 10.1597/11-153
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- Publication type:
- Article
Syndromic craniosynostosis: from history to hydrogen bonds.
- Published in:
- 2007
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- Publication type:
- journal article
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1046, doi. 10.1002/acn3.51786
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- Publication type:
- Article
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24852-9
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- Publication type:
- Article
Sleep Disturbances in 22q11.2 Deletion Syndrome: A Case With Obstructive and Central Sleep Apnea.
- Published in:
- Cleft Palate Craniofacial Journal, 2007, v. 44, n. 3, p. 340, doi. 10.1597/05-196
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- Publication type:
- Article
New Scaphocephaly Severity Indices of Sagittal Craniosynostosis: A Comparative Study With Cranial Index Quantifications.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 2, p. 211, doi. 10.1597/04-208.1
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- Publication type:
- Article
Microtia: Epidemiology and genetics.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 124, doi. 10.1002/ajmg.a.34352
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- Publication type:
- Article
IGF1R variants associated with isolated single suture craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 91, doi. 10.1002/ajmg.a.33781
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- Publication type:
- Article
EVALUATING FONTANELS IN THE NEWBORN SKULL.
- Published in:
- Contemporary Pediatrics, 2013, v. 30, n. 11, p. 12
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- Publication type:
- Article
Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2651, doi. 10.1002/ajmg.a.63348
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- Publication type:
- Article
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1227, doi. 10.1002/ajmg.a.63130
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- Publication type:
- Article
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3694, doi. 10.1002/ajmg.a.62430
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- Publication type:
- Article
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 414, doi. 10.1002/ajmg.a.38030
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- Publication type:
- Article
Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1345, doi. 10.1002/ajmg.a.35926
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- Publication type:
- Article
'Mandibulofacial dysostosis with microcephaly' caused by EFTUD2 mutations: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 108, doi. 10.1002/ajmg.a.35696
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- Publication type:
- Article