Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent [0.03%]
描述印度次大陆印欧语系/印地语系语言出现的年代框架的持续完善工作
Ramakrishnan Sitaraman
Ramakrishnan Sitaraman
TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome [0.03%]
TMC6/8相关型表皮发育不良症疣状表皮瘤样变：基因组变异及一种皮肤癌易感综合征的复杂结构改变
Ceren Damla Durmaz,Naz Güleray Lafcı,Dilsu Dicle Erkan et al.
Ceren Damla Durmaz et al.
Hereditary epidermodysplasia verruciformis (EV) represents a paradigmatic inherited cutaneous syndrome linking viral susceptibility, immunity, and oncogenesis. Although biallelic variants in CIB1, TMC6, and TMC8-encoding components of the k...
An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease [0.03%]
基于NGS的拷贝数变异在成人多囊肾病诊断和严重程度方面的研究
Sophia Heneghan,Elhussein A E Elhassan,Hamidah Ghani et al.
Sophia Heneghan et al.
Polycystic kidney disease (PKD) is a Mendelian renal disease characterised by the development of cysts and progressive decline in kidney function, leading to kidney failure. Although genetic testing can provide a precise molecular diagnosis...
A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder [0.03%]
RPA2同合子突变与骨髓衰竭、免疫缺陷和端粒生物学障碍相关性研究
Amos J Simon,Monica Neustadter-Blackman,Atar Lev et al.
Amos J Simon et al.
Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a child presenting with early BMF, immunod...
Genetic counseling services for hereditary breast and ovarian cancer: patients' experience and satisfaction with different service models [0.03%]
遗传咨询门诊服务在林肯郡的推行情况及其对乳腺癌和卵巢癌患者的意义调查报告：不同的服务模式下的患者体验和满意度调查
Ouerdia Haroun,Julie Lapointe,Rachel Guérard et al.
Ouerdia Haroun et al.
In the context of limited resources and growing demand, patients access genetic testing for hereditary breast and ovarian cancer (HBOC) through various service models, some of which include genetic counseling sessions. This study assessed t...
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study [0.03%]
欧洲癌症高质量遗传咨询可持续获取的优先战略：德尔菲研究
J Matt McCrary,Els Van Valckenborgh,Denis Horgan et al.
J Matt McCrary et al.
Europe's Beating Cancer Plan is a substantial European Union (EU) investment into cancer prevention and treatment. Integration of genetic services towards personalised cancer prevention and care is a flagship of this plan. Genetic counselli...
Impact of a digital platform on genetic counselling encounters in the screening context [0.03%]
数字平台对筛查背景下遗传咨询的影响
Chloe Mighton,Alli Jan,Ling Lee et al.
Chloe Mighton et al.
Digital tools for pre-test education provision and decision support could assist the scalability of opportunistic genomic screening. We evaluated the utility of a digital platform, the Genetics Adviser (GA), for supporting parental decision...
Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy [0.03%]
划定与RNF213相关的血管病的遗传基础：PKHD1变异体与双侧脑血管病的相关性
Daiichiro Ishigami,Shinichi Namba,Satoru Miyawaki et al.
Daiichiro Ishigami et al.
Moyamoya disease (MMD) is an idiopathic cerebrovascular disorder characterized by progressive stenosis of the internal carotid artery termini and the formation of an abnormal network of fragile perforators. Although the RNF213 gene has been...
Public and parent perspectives on genomic sequencing in newborn screening: a scoping review [0.03%]
关于基因组测序在新生儿筛查中的作用：公共和家长视角的纲要回顾
Saskia G Smits,Suzanne M Onstwedder,Tessel Rigter et al.
Saskia G Smits et al.
Newborn screening (NBS) aims to identify rare but treatable conditions in newborns to offer early interventions. The possibilities of genomic sequencing are being researched to further strengthen NBS. This scoping review explores public and...
Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users [0.03%]
荷兰用户直接面向消费者的基因检测体验、决策和观点
Danny Bruins,Esther A M Bührman,Martina C Cornel et al.
Danny Bruins et al.
Insights into the perspectives, decision-making and experiences of non-US consumers regarding health-related direct-to-consumer genetic testing (DTC-GT) are currently lacking. These insights are essential to allow the implementation of cons...