نتایج جستجو برای: nonsyndromic deafness
تعداد نتایج: 9132 فیلتر نتایج به سال:
BACKGROUND Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most stu...
I read with interest the recent article by Yelverton and colleagues that profiles a large group of patients with hearing loss and mitochondrial mutations. The authors should be commended for the size and scope of this study; however, I feel that the study’s limitations may lead to misconceptions among some readers about this interesting and important patient group. The authors note some limitat...
OBJECTIVE To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness and hard of hearing (D/HOH). METHODS A questionnaire was designed to assess the level of knowledge and understanding of the genetic basis and genetic testing for deafness among a cohort of pediatric otolaryngologists. Three hundred questionnaires w...
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