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期刊名:Journal of community genetics

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ISSN:1868-310X

e-ISSN:1868-6001

IF/分区:1.8/Q3

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共收录本刊相关文章索引82
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
C Farra,J Awwad,A Fadlallah et al. C Farra et al.
This study aims to investigate the association of human leukocyte antigen (HLA) class II genes and cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) with autoimmune thyroid diseases in the Lebanese population. A total of 128 patients wit...
Jorge Sequeiros,Milena Paneque,Bárbara Guimarães et al. Jorge Sequeiros et al.
In spite of being very commonly used, the term genetic testing is debatable and used with several meanings. The diversity of existing definitions is confusing for scientists, clinicians and other professionals, health authorities, legislato...
Stuart G Nicholls,K W Southern Stuart G Nicholls
The aim of this study was to investigate how parents select and use information sources when considering newborn bloodspot screening. Mixed methods approach using semi-structured interviews (n = 18) and a self-completion postal questionnair...
Martijn D F Rhebergen,Maaike J Visser,Maarten M Verberk et al. Martijn D F Rhebergen et al.
We compared three common user involvement methods in revealing barriers and facilitators from intended users that might influence their use of a new genetic test. The study was part of the development of a new genetic test on the susceptibi...
Alvaro Mendes,Milena Paneque,Liliana Sousa Alvaro Mendes
This article examines genetics healthcare professionals' opinions about a multifamily psychoeducational programme for hereditary cancer susceptibility families, implemented at a Portuguese genetics service. Their views on how a family-orien...
Francine Sirois,Nadine Kaefer,Krista A Currie et al. Francine Sirois et al.
The PCSK1 (proprotein convertase subtilisin/kexin type 1) locus encodes proprotein convertase 1/3, an endoprotease that converts prohormones and proneuropeptides to their active forms. Spontaneous loss-of-function mutations in the coding se...
Orsolya Varga,Sirpa Soini,Helena Kääriäinen et al. Orsolya Varga et al.
The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding ge...