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Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet avai...
Knowledge and perception of medical students on genetics in the genomic era
Knowledge and perception of medical students on genetics in the genomic era
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education f...
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for sever...
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is import...
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the e...
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metaboli...
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availabili...
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressiv...
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving pu...
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a si...
Building a National Policy for Rare Disease in Brazil
Building a National Policy for Rare Disease in Brazil
Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not onl...
Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process
Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process
Multifactorial cancer risk prediction tools, such as CanRisk, are increasingly being incorporated into routine healthcare....
The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants
The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants
The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is ...
Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer
Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer
Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of s...
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS)....
Teaching and training of human resources for genetics and genomics in Brazil
Teaching and training of human resources for genetics and genomics in Brazil
This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics...
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with ...
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHC...
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As ...
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elev...
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for impr...
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary a...
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their pr...
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards gen...
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies
Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birt...
Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients
Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients
Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patie...
Health-related roles of older generations in families with inherited genetic conditions: a scoping review
Health-related roles of older generations in families with inherited genetic conditions: a scoping review
Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations...
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
Polygenic scores (PGS) have been developed for cancer risk-estimation and show potential as tools to prompt earlier referr...
Caregiver-reported barriers to care for children and adults with Williams Syndrome
Caregiver-reported barriers to care for children and adults with Williams Syndrome
Individuals with Williams syndrome (WS) may experience a variety of medical, behavioral, and educational concerns. The pri...
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of w...
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