全文获取类型
收费全文 | 1280篇 |
免费 | 82篇 |
国内免费 | 85篇 |
出版年
2024年 | 9篇 |
2023年 | 27篇 |
2022年 | 12篇 |
2021年 | 24篇 |
2020年 | 55篇 |
2019年 | 44篇 |
2018年 | 40篇 |
2017年 | 56篇 |
2016年 | 54篇 |
2015年 | 30篇 |
2014年 | 48篇 |
2013年 | 158篇 |
2012年 | 34篇 |
2011年 | 64篇 |
2010年 | 36篇 |
2009年 | 54篇 |
2008年 | 49篇 |
2007年 | 92篇 |
2006年 | 88篇 |
2005年 | 75篇 |
2004年 | 47篇 |
2003年 | 50篇 |
2002年 | 46篇 |
2001年 | 37篇 |
2000年 | 40篇 |
1999年 | 25篇 |
1998年 | 34篇 |
1997年 | 22篇 |
1996年 | 13篇 |
1995年 | 12篇 |
1994年 | 20篇 |
1993年 | 21篇 |
1992年 | 13篇 |
1991年 | 4篇 |
1990年 | 2篇 |
1989年 | 4篇 |
1988年 | 2篇 |
1987年 | 3篇 |
1985年 | 1篇 |
1978年 | 1篇 |
1977年 | 1篇 |
排序方式: 共有1447条查询结果,搜索用时 15 毫秒
991.
With recent progress in the identification of genes for deafness, it is highly likely that genetic testing, including pre-natal testing, for deafness will become more widely available. In a context where there are concerns about pre-natal testing, and where many in the Deaf community contest the understanding of deafness as a disability, it is important to examine the attitudes of Deaf/deaf people toward genetic testing. This qualitative study employed in-depth interviews to investigate the views about genetic testing for deafness of 19 participants, who were identified as functionally deaf or hearing impaired, or as belonging to the Deaf community. The key findings are that participants were generally supportive of genetic testing for deafness but only when full information about all relevant aspects of deafness is given to prospective users of genetics services. Participants emphasized informed choice, stating that information about medical and technological options for deaf people should be provided, together with information about communication, education, and the experience of being deaf. Although there was less support for pre-natal diagnosis and termination of pregnancy for deafness, most participants nonetheless felt that individual choice was important and that pre-natal diagnosis should be made available to those who wanted to use it. 相似文献
992.
Schneider KA Chittenden AB Branda KJ Keenan MA Joffe S Patenaude AF Reynolds H Dent K Eubanks S Goldman J Leroy B Warren NS Taylor K Vockley CW Garber JE 《Journal of genetic counseling》2006,15(6):491-503
This article presents and discusses four clinical cases that exemplify the complexity of ethical dilemmas concerning the provider's obligation to disclose or withhold genetic information from patients. Case 1: What is the responsibility of the cancer genetics provider to ensure that a positive test results is shared with distant relatives? Case 2: To ensure that results go to at-risk relatives, do we have the right to ignore the wishes of the designated next-of-kin? Case 3: Do we have the right to reveal a familial BRCA1 mutation to a patient's relative, who is at 50% risk? Case 4: Do we have an obligation to reveal that a patient is not a blood relative and therefore, not at risk to have inherited a familial mutation? These cases form the basis for discussing the provider's dual obligations to keeping patient confidentiality and informing patients and families about risk (i.e. duty to warn). We also provide a summary of consensus points and additional discussion questions for each case. 相似文献
993.
Purpose: The psychological consequences of genetic testing for mutations among individuals at increased risk of developing melanoma remain unexamined. The present study aimed to explore anticipated emotional, behavioral, cognitive, and familial responses to hypothetical genetic testing for melanoma susceptibility. Methods: Forty semi-structured interviews were undertaken with affected (n=20) and unaffected (n=20) individuals at either high or average risk of developing melanoma due to family history. Results: In-depth thematic analysis revealed that, in response to being identified as a mutation carrier, most participants with a family history anticipated calmly accepting their increased risk; either increasing precaution adoption or maintaining already vigilant behavioral practices; perceiving such information as important and valuable; and communicating genetic test results to family members, despite the acknowledgement of potential difficulties. In response to being identified as a non-carrier, the majority of participants expected to feel relieved; to maintain current precautionary health practices; to still perceive themselves at some risk of developing melanoma; and to be wary of the potential negative behavioral consequences of disclosing such information to family members. Women appeared more likely than men to acknowledge the potential for depression and worry following genetic testing. In contrast, more males than females expected to carry a gene mutation, and viewed their current preventive practices as optimum. Conclusion: Genetic testing for melanoma risk is likely to elicit a complex array of emotional, behavioral, cognitive, and familial responses for both testees and their family members, and these responses are likely to bear subtle differences for males and females. 相似文献
994.
995.
There is limited research about ethical and professional dilemmas that genetic counselors encounter in their practice and their strategies for addressing them. In this study, 454 genetic counselors rated the frequency with which they encounter each of 16 ethical/professional challenges identified and categorized previously (McCarthy Veach P, Bartels DM, LeRoy BS (2001) J Genet Couns 10(2):97–119). Over 40% indicated these issues occurred frequently: patient emotions, diversity, financial constraints, uncertainty, and colleague error. Two hundred and fifty-five respondents provided personal anecdotes describing exceptionally challenging situations and recommended strategies for addressing them. Most of their anecdotes involved informed consent, value conflicts, confidentiality, colleague error, withholding information, and resource allocation. The most frequently recommended strategies were further discussion with patient, consultation with other professionals, and referral to other health sources. Thirty-five respondents were unable to/did not offer strategies. Respondent demographics were not related to frequency of issues, type of anecdote, or recommended strategies. Practice, policy, and research implications are discussed. 相似文献
996.
Lewis LJ 《Journal of genetic counseling》2002,11(3):193-212
This theoretical paper examines challenges to multicultural genetic counseling, counseling between culturally different clients and counselors, in the context of Kessler's typology of models of genetic counseling (Kessler S (1997) J Genet Counsel 6:287–295). It is suggested that challenges such as resistance to multicultural genetic counseling education may be due to conceptions about genetic counseling as a biomedical field that transcends questions of culture as well as lack of multicultural training or prejudice. Directions for future research and recommendations for multicultural genetic counseling education are briefly explored. 相似文献
997.
998.
Twenty-five genetic counselors who see familial cancer risk patients were interviewed about their definitions of genetic discrimination, perceptions of patient risk for discrimination, frequency and type of discrimination experienced by their patients, sources of information about discrimination, and what they tell patients about genetic discrimination. There was variability in participant definitions and content of discussions of genetic discrimination. Although 82% regarded risk to be low to theoretical, 40% reported possible instances of genetic discrimination, including insurance companies requiring results to cover procedures, denial of life/health insurance, social discrimination, and employment discrimination. Ninety-six percent of the sample reported always or almost always discussing genetic discrimination, and one or more of the following: insurance discrimination risks, protective legislation, no known cases positively documenting discrimination, strategies to avoid discrimination, and uncertainty of protective measures. The majority use current literature and research as information sources. Practice, policy, and research implications are discussed. 相似文献
999.
This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives. 相似文献
1000.
Currently there is much debate regarding the ability of mathematical models incorporating epidemiological information or mutation-based risk algorithms to accurately predict a woman's risk of developing breast cancer. Without access to accurate family history information these models have limited use. This study compares different methods of gathering family history information and the impact on subsequent risk assessment. These methods were compared to the gold standard interview with a trained genetics' professional. The amount and accuracy of information provided by primary care doctors' letters was found to be poor and better information was obtained by sending a postal questionnaire directly to the patient. Because of the high number of low-risk women referred to clinic a questionnaire (the FCAT) was designed to provide reassurance and piloted as part of this study. This paper highlights the importance of using appropriate methods to gather the family history information. It presents evidence for the importance of a skilled assessor and the need to allow time for women to discuss the importance of this information with their family. 相似文献