Results 91 to 100 of about 11,048 (255)

A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. [PDF]

open access: yes, 2014
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]

open access: bronze, 2009
Maria A. Artunduaga   +11 more
openalex   +1 more source

Monitoring Children with Risk Factors. 2008 [PDF]

open access: yes, 2008
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]

open access: diamond, 2012
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]

open access: yes, 2013
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
core  

Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina [PDF]

open access: yes, 2010
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  

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe [PDF]

open access: yes
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

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia

open access: gold, 2020
Xinmiao Fan   +8 more
openalex   +1 more source

Imaging profile of the ear in hearing loss patients in Hospital Universiti Sains Malaysia [PDF]

open access: yes, 2015
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
core  

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