Promoting international, locally focused, and patient-oriented genetic counseling [0.03%]
推广面向国际、本地化和以患者为中心的遗传咨询
Jon Weil,Dina Alaeddin,Rawan Awwad et al.
Jon Weil et al.
Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program [0.03%]
儿科重症监护患者的快速基因组检测：国家计划中的遗传咨询经验教训
Kirsten Boggs,Fiona Lynch,Michelle Ward et al.
Kirsten Boggs et al.
Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings requi...
A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program [0.03%]
澳大拉西亚遗传咨询师协会(ASGC)导师项目的混合研究评估方法
Holly Canton,Rebecca Macintosh,Joanna Sweeting et al.
Holly Canton et al.
Purpose: In Australia and New Zealand, one third of genetic counselors have less than 5 years' experience. Sharing experienced practitioners' professional knowledge is needed as the profession grows. Formal mentoring is a...
Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand [0.03%]
澳大利亚和新西兰的遗传咨询工作力量、包容性和能力
Anaita Kanga-Parabia,Lucas Mitchell,Renee Smyth et al.
Anaita Kanga-Parabia et al.
Purpose: To understand diversity, inclusion, and capacity of genetic counselors (GCs) in Australasia (Australia and New Zealand). Methods: ...
iKNOW-Supporting the counseling of women with hereditary risk of breast and ovarian cancer with digital technologies: A randomized controlled trial [0.03%]
iKNOW-利用数字技术协助具有乳腺癌和卵巢癌遗传风险的女性咨询：一项随机对照试验
Markus A Feufel,Dorothee Speiser,Stephen Schüürhuis et al.
Markus A Feufel et al.
Purpose: We developed the online-based counseling tool iKNOW for women with a pathogenic germline variant in BRCA1/2 to improve risk understanding and quality of life. ...
Integration of validated functional evidence to support the pathogenicity of KCNH2 variants [0.03%]
整合验证的功能证据以支持KCNH2变异的致病性
Reema W Aljassar,Qianyi Shen,Buthaina Albash et al.
Reema W Aljassar et al.
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-scor...
The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency [0.03%]
鞘磷脂对酸性鞘磷脂酶缺乏症 oliporta 酶α 治疗反应病理生理学影响的研究
Monica Kumar,Mario Aguiar,Andreas Jessel et al.
Monica Kumar et al.
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its s...
Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America [0.03%]
一项关于软骨发育不全的终身影响研究（LISA）：聚焦拉丁美洲软骨发育不全患者生活质量的观察性跨国研究结果
Juan Llerena Jr,Pablo Rosselli,Amanda Aragão et al.
Juan Llerena Jr et al.
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact St...
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study [0.03%]
一项关于年轻的儿科患者GLA基因变异的前瞻性特征研究：来自Fabry MOPPet研究的为期五年的纵向数据（摘要）
D A Laney,M F Houde,A L Foley et al.
D A Laney et al.
Purpose: This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease spectrum. ...
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome [0.03%]
指纹自动化分析在遗传紊乱卡布奇尼综合症诊断中的应用工具
Viktor Ingi Agustsson,Pall Asgeir Bjornsson,Ashildur Fridriksdottir et al.
Viktor Ingi Agustsson et al.
Purpose: Emerging therapeutic strategies for Kabuki syndrome (KS) make early diagnosis critical. Fingerprint analysis as a diagnostic aid for KS diagnosis could facilitate early diagnosis and expand the current patient ba...