نتایج جستجو برای: microtia

تعداد نتایج: 373  

Journal: :Archivos Argentinos de Pediatria 2012

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Journal: Medical Journal of Islamic Republic of Iran 1991
A JASOVIC, D DJERIC, D SAVIC, N MITROVIC,

The authors used high-resolution computed tomography (HRCT) for studying 52 congenitally malformed ears in 45 children between five and 10 years of age. In six children the malformations were bilateral. The malformations clinically manifested as microtia, atresia of the external auditory canal and conductive deafness. Analyzing anatomical details and pathological changes on HRCT axial sec...

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Journal: :Practica Oto-Rhino-Laryngologica 1990

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Journal: :BMC Medical Genomics 2019

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Journal: :Oncotarget 2017

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Journal: :Arquivo Brasileiro de Medicina Veterinária e Zootecnia 2016

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Journal: :Indian Journal of Surgery 2015

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Journal: :Indian Journal of Plastic Surgery 2019

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Journal: :Journal of Cosmetic Medicine 2021

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Journal: :American journal of human genetics 2008
Irina Balikova Kevin Martens Cindy Melotte Mustapha Amyere Steven Van Vooren Yves Moreau David Vetrie Heike Fiegler Nigel P Carter Thomas Liehr Miikka Vikkula Gert Matthijs Jean-Pierre Fryns Ingele Casteels Koen Devriendt Joris Robert Vermeesch

Recently, large-scale benign copy-number variations (CNVs)--encompassing over 12% of the genome and containing genes considered to be dosage tolerant for human development--were uncovered in the human population. Here we present a family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct. This phenotype is lin...

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