推荐同事 机构合作 中文 繁體中文 English 한국어 日本語 Português Español

美国ACCDON公司旗下品牌

021-33361733,021-34243363

chinasupport@letpub.com

登录 注册 新注册优惠

SM Maricich, KA Aqeeb, Y Moayedi… - Journal of Child …, 2011 - jcn.sagepub.com
Abstract The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating
conditions characterized by multiple structural abnormalities of the ventral pons, inferior
olive, and cerebellum. Here, we briefly review these conditions and discuss genes ...
Related articles - All 2 versions
JJ Barrott, GM Cash, AP Smith… - Proceedings of the …, 2011 - National Acad Sciences
The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins,
and sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant
disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome). We generated a ...
J Valero, S Blaser, BC Papsin, AL James… - Ear and …, 2011 - journals.lww.com
Objectives: Hypoplasia of the auditory nerve (AN) refers to significant narrowing of the VIIIth cranial
nerve which could compromise stimulation of the nerve by electrical pulses delivered from a
cochlear implant (CI), thereby hindering activity in other parts of the auditory pathways. To ...
Related articles - All 2 versions
Y Namavar, PG Barth, PR Kasher, F van Ruissen… - Brain, 2011 - Oxford Univ Press
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders
with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy
of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable ...
Cited by 9 - Related articles - All 5 versions
MA de la Fuente, M Recher, NL Rider… - Journal of Allergy and …, 2011 - Elsevier
Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow
failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused
by mutations in the RNA component of the mitochondrial RNA processing (RMRP) ...
Related articles - All 3 versions

联系我们 | 站点地图 | 友情链接 | 授权代理商 | 加入我们

© 2010-2024 中国: LetPub上海    网站备案号:沪ICP备10217908号-1    沪公网安备号:31010402006960 (网站)31010405000484 (蝌蝌APP)

增值电信业务经营许可证:沪B2-20211595    网络文化经营许可证:沪网文[2023]2004-152号

礼翰商务信息咨询(上海)有限公司      办公地址:上海市徐汇区漕溪北路88号圣爱大厦1803室