14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

Jones Gabriela E.; Robertson Lisa; Warman Paul; Craft Emily V.; Cresswell Lara; Vasudevan Pradeep C.

首页> 外文期刊>Ophthalmic genetics >14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

【24h】

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

机译：14q22.3微缺失，涵盖5代家庭中的OTX2，患有小眼症，垂体异常和智力障碍

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Ophthalmic genetics》 |2016年第3期|共2页
作者
Jones Gabriela E.; Robertson Lisa; Warman Paul; Craft Emily V.; Cresswell Lara; Vasudevan Pradeep C.;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词

相似文献

外文文献
中文文献

1. 14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability [J] . Jones Gabriela E., Robertson Lisa, Warman Paul, Ophthalmic genetics . 2016,第3期

机译：14q22.3微缺失，涵盖5代家庭中的OTX2，患有小眼症，垂体异常和智力障碍
2. A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects [J] . Gaetano Terrone, Giuseppina Vitiello, Rita Genesio, European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society . 2017,第6期

机译：具有智力残疾的家庭中的新型Shank3间质微缺席，脑MRI异常类似于未识别的明亮物体
3. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities [J] . Mackenroth Luisa, Hackmann Karl, Beyer Anke, American journal of medical genetics, Part A . 2015,第11期

机译：智障，严重异常多变和行为异常的家庭中的6q22.33微缺失
4. Untapped Markets in Cloud Computing: Perspectives and Profiles of Individuals with Intellectual and Developmental Disabilities and Their Families [C] . Ann Cameron Caldwell International conference on human-computer interaction;UAHCI 2011;International conference on universal access in human-computer interaction;HCI international 2011 . 2011

机译：云计算中尚未开发的市场：智力和发育障碍者及其家庭的观点和概况
5. Family needs and family quality of life for taiwanese families of children with intellectual disability and developmental delay. [D] . Chiu, Chun-Yu. 2013

机译：台湾智障和发育迟缓儿童家庭的家庭需求和家庭生活质量。
6. Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability [O] . Sepideh Mehvari, Farzaneh Larti, Hao Hu, 2020

机译：全基因组测序识别包含智商残疾的大型伊朗家庭XQ13.2Q13.3的重复区域
7. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes [O] . Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, 2014

机译：一种新发现的13q12.3微缺失综合症，特征在于智力障碍，小头畸形和湿疹/特应性皮炎，包括HMGB1和KATNAL1基因

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

著录项

相似文献

相关主题

期刊订阅