SCI时时刷

search
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N (2012) Genetics in health care: an overview of current and...
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
Understanding attitudes towards genetic exceptionalism and confidentiality is important in guiding policies regarding spec...
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, seri...
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
The APOE-ε4 allele(s) is a strong risk factor for Alzheimer’s disease (AD). A significant point of access for t...
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to...
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
Wikipedia, the open crowdsourced encyclopedia that anyone can edit, ranks among the top ten most-visited websites globally...
Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses
Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses
Primary Health Care (PHC) is the gateway for patients in the Brazilian unified health system (Sistema Único de Sa...
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2...
Patient experiences in receiving telegenetics care for inherited cardiovascular diseases
Patient experiences in receiving telegenetics care for inherited cardiovascular diseases
Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particula...
A qualitative exploration of interprofessional collaborative practice between genetic counselors and mental health providers
A qualitative exploration of interprofessional collaborative practice between genetic counselors and mental health providers
Genetic counselors (GCs) typically provide short-term counseling and assess patient needs, including the need for ongoing ...
Latina immigrants’ breast and colon cancer causal attributions: genetics is key
Latina immigrants’ breast and colon cancer causal attributions: genetics is key
Latinos in the US suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Unders...
Survey of attitude to human genome modification in Nigeria
Survey of attitude to human genome modification in Nigeria
Gene editing and mitochondrial replacement therapy (MRT) are biotechnologies used to modify the host nuclear and mitochond...
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations
Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be levera...
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings
Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic ...
Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis
Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis
A large number of studies have reported that the prevalence of beta thalassemia carriers in India varies by ethnic groups....
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how ad...
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardles...
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognos...
Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening
Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening
Limited competency in genetics among primary care providers (PCPs) is a barrier to use of genetic information in healthcar...
Ethics of artificial intelligence in prenatal and pediatric genomic medicine
Ethics of artificial intelligence in prenatal and pediatric genomic medicine
This paper examines the ethics of introducing emerging forms of artificial intelligence (AI) into prenatal and pediatric g...
Short Communication: Lived experience perspectives on genetic testing for a rare eye disease
Short Communication: Lived experience perspectives on genetic testing for a rare eye disease
This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-struct...
Big advocacy, little recognition: the hidden work of Black patients in precision medicine
Big advocacy, little recognition: the hidden work of Black patients in precision medicine
As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genom...
When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers
When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers
With the rapid expansion of genomic medicine, more citizens are compelled to think about genetics in their daily lives. Th...