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[Role of three dimensional spiral CT in the evaluation of craniofacial abnormalities in pediatric patients].Academic Article Why?
Craniofacial AbnormalitiesConcept Why?
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.Academic Article Why?
Dobyns, WilliamPerson Why?
Reid, Russell R.Person Why?
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Academic Article Why?
Anomalous stapes in Down syndrome.Academic Article Why?
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.Academic Article Why?
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.Academic Article Why?
Craniofacial syndromes and sleep-related breathing disorders.Academic Article Why?
CT and MRI of congenital nasal lesions in syndromic conditions.Academic Article Why?
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.Academic Article Why?
Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.Academic Article Why?
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.Academic Article Why?
King syndrome: further clinical variability and review of the literature.Academic Article Why?
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