Albinism: An Underdiagnosed Condition
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference4 articles.
1. Clinical and genetic aspects of albinism;Arveiler;Presse Med,2017
2. Molecular characterization of a series of 990 index patients with albinism;Lasseaux;Pigment Cell Melanoma Res,2018
3. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene;Monfermé;Br J Ophthalmol,2019
4. Increasing the complexity: new genes and new types of albinism;Montoliu;Pigment Cell Melanoma Res,2014
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Functional Characterization of Splice Variants in the Diagnosis of Albinism;International Journal of Molecular Sciences;2024-08-08
2. Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights;Scientific Reports;2024-07-04
3. Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism;Investigative Opthalmology & Visual Science;2024-03-05
4. Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease;International Journal of Molecular Sciences;2024-01-20
5. Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review;Investigative Opthalmology & Visual Science;2023-07-13
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3