A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. [PDF]
BACKGROUND: Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats.
Fekete, György +5 more
core +3 more sources
A Classic Twin Study of External Ear Malformations, Including Microtia [PDF]
Maria A. Artunduaga +11 more
openalex +1 more source
Monitoring Children with Risk Factors. 2008 [PDF]
The Iowa EHDI High-Risk Monitoring Protocol is based on the Joint Committee on Infant Hearing 2007 position statement. Emphasis is placed on follow-up as deemed appropriate by the primary health care provider and audiologist.
core
HRCT evaluation of microtia: A retrospective study [PDF]
Aruna R. Patil +6 more
openalex +1 more source
UTILIDAD DE LA TOMOGRAFÍA SIMPLE PARA DETERMINAR EL PRONÓSTICO DEL USO DE AUXILIARES AUDITIVOS EN PACIENTES PEDIÁTRICOS TRATADOS EN EL ISEM, DE AGOSTO A DICIEMBRE DE 2012. [PDF]
Objetivo: Valorar la utilidad predictiva de la TC simple en pacientes con diagnóstico de hipoacusia para determinar el pronóstico del uso de auxiliares auditivos. Sede: Centro Médico “Lic. Adolfo López Mateos”, ISEM.
Cuevas Monroy, José Daniel +1 more
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Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina [PDF]
Objetivo. Estimar la frecuencia de 27 anomalías congénitas en 7 regiones geográficas de la Argentina. Material y métodos. Diseño observacional, transversal, descriptivo.
Campaña, Hebe +3 more
core
Prosthetic Management of Post Brent Surgery in Microtia Repair: A Case Series
A Meenakshi +2 more
openalex +1 more source
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe [PDF]
Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies.
Addor, Marie-Claude +21 more
core +1 more source
Imaging profile of the ear in hearing loss patients in Hospital Universiti Sains Malaysia [PDF]
Introduction: Hearing impairment is a major disability. The otologic assessments together with high-resolution CT images were able to obtain precise diagnostic profile of ear malformations.
Japar@Jaafar, Rohaizam
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