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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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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
Leo P Ten Kate Leo P Ten Kate
In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, ...
Robin L Bennett Robin L Bennett
A multigenerational medical family history graphically recorded as a pedigree or family tree is a cost-effective tool in preconception counseling to identify couples at risk to have offspring with inherited disorders and to identify if eith...
Andrew P Read,Dian Donnai Andrew P Read
We review the reasons why a couple might seek specialist genetic counselling about a possible reproductive risk and the options available to them. Most commonly, the couple will be concerned about the risk of recurrence of a medical conditi...
John J Mulvihill John J Mulvihill
Contrary to intuition, no environmental exposure has been proved to cause human germ line mutations that manifest as heritable disease in the offspring, not among the children born to survivors of the American atomic bombs in Japan nor in s...
Chris Barnes,Lauren Kerzin-Storrar,Heather Skirton et al. Chris Barnes et al.
Although the professional title 'genetic counsellor' has wide international recognition, formal courses or training programmes in genetic counselling exist in only a small number of countries. In 2002, voluntary registration of genetic coun...
S Riedijk,G Oudesluijs,A Tibben S Riedijk
To date, little is known about the psychosocial aspects of preconception consultation (PCC) in primary care. PCC in primary care is appropriate for couples and individuals with a reproductive wish. In PCC, non-genetic and genetic risk facto...
Heather Skirton,Sivia Barnoy,Yurdagul Erdem et al. Heather Skirton et al.
Nurses and midwives need to develop specific knowledge and skills in genetics to enable them to offer appropriate healthcare in a range of non-specialist settings. Studies on the topic indicate that while nurses acknowledged the importance ...
Sato Ashida,Melody S Goodman,Jewel Stafford et al. Sato Ashida et al.
Inadequate knowledge of family health history (FHH) continues to be a major obstacle limiting its usefulness in public health and clinical practice; strategies to facilitate FHH dissemination are needed. Data (N = 1,334) were obtained throu...
Hans-Hilger Ropers Hans-Hilger Ropers
Next-generation sequencing (NGS) techniques have greatly accelerated the molecular elucidation of Mendelian disorders, and affordable NGS-based diagnostic tests are around the corner that promise to detect or rule out mutations in specific ...