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971.
Theodora Gale Sara Pasalodos-Sanchez Lauren Kerzin-Storrar Georgina Hall Rhona MacLeod 《Journal of genetic counseling》2010,19(1):55-67
The explanation of Mendelian inheritance is a key component of most genetic counselling consultations, yet no evidence base
exists for this area of practice. This qualitative study used Interpersonal Process Recall (IPR) to explore how information
about X-linked inheritance is provided and received in genetic counseling. Twelve consultations involving two senior genetic
counselors and 21 counselees were videotaped. Section(s) of videotape featuring the explanation were subsequently played back
separately to both counselees and counselors and their responses and reflections recorded. All interviews were fully transcribed
and analysed using the constant comparison method. A personalised diagram, drawn “live” by the counselor during the consultation
was recalled by counselees as being central to their understanding of the “bottom line”. This helped bridge the gap between
scientific information and their family experience and did not appear to require a baseline understanding of genetic concepts
such as genes or chromosomes. Counselors reflected on the diagram’s positive impact on the way they sequenced, paced and tailored
the explanation. A positive counselor-counselee relationship was vital even during this educative exchange: for counselees
to feel at ease discussing complex genetic information and to help gauge counselee understanding. 相似文献
972.
Sara Macellini Pier Francesco Ferrari Luca Bonini Leonardo Fogassi Annika Paukner 《Animal cognition》2010,13(4):631-639
Classic mirror self-recognition mark tests involve familiarizing the subject with its mirror image, surreptitiously applying
a mark on the subject’s eyebrow, nose, or ear, and measuring self-directed behaviors toward the mark. For many non-human primate
species, however, direct gaze at the face constitutes an aggressive and threatening signal. It is therefore possible that
monkeys fail the mark test because they do not closely inspect their faces in a mirror and hence they have no expectations
about their physical appearance. In the current study, we prevented two pig-tailed macaques (Macaca nemestrina) from seeing their own faces in a mirror, and we adopted a modified version of the classic mark test in which monkeys were
marked on the chest, a body region to which they normally have direct visual access but that in the current study was visible
only via a mirror. Neither monkey tried to touch the mark on its chest, possibly due to a failure to understand the mirror
as a reflective surface. To further the monkeys’ understanding of the mirror image, we trained them to reach for food using
the mirror as the only source of information. After both monkeys had learned mirror-mediated reaching, we replicated the mark
test. In this latter phase of the study, only one monkey scratched the red dye on the chest once. The results are consistent
with other findings suggesting that monkeys are not capable of passing a mark test and imply that face and body recognition
rely on the same cognitive abilities. 相似文献
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Three hundred ninety-four college students (148 men and 246 women; 42% White, 25% Hispanic, and 23% Asian) were assessed on masculine instrumentality (M), feminine expressiveness (F), gender diagnosticity (GD), and the Big Five personality traits (Extraversion, Agreeableness, Conscientiousness, Neuroticism, and Openness). Participants completed a 16-item sexual behavior and attitude questionnaire that asked about their attraction to men, their attraction to women, their degree of emotional commitment in sexual relationships, their level of sex drive, and their interest in visual sexual stimuli and fantasy. Factor analysis of sexual behavior and attitude items for men showed four factors: Bipolar Sexual Orientation, Emotional Commitment, Sex Drive, and Sexual Fantasy. Factor analysis of items for women showed four somewhat different factors: Homosexuality, Heterosexuality, Emotional Commitment, and Sex Drive. Thus, sexual orientation proved to be bipolar for men, but two-dimensional for women. For men, Sexual Orientation correlated most strongly with GD, less with M, and not at all with F. Among women, there were few significant correlations between personality measures and Homosexuality or Heterosexuality. 相似文献
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979.
Stephanie E. Wallace Sara Gilvary Michael J. Smith Siobhan M. Dolan 《Journal of genetic counseling》2018,27(3):656-664
Families that choose to continue a pregnancy with a prenatal diagnosis of Trisomy 13/18 are a minority that present unique challenges for those in charge of their care. This study investigated the extent to which these patients felt supported by their healthcare providers, and any differences in the perceived level of support experienced by those working with a physician versus those working with a genetic counselor. Two online support groups, SOFT and Hope for Trisomy, distributed an online survey to their members. Means, standard deviations and chi-square analysis were calculated to describe their responses. One-hundred fourteen surveys were included in the final analysis. Respondents were more likely to agree that genetic counselors provided unbiased information in a way that they understood, compared to physicians. Review of qualitative responses found that portrayal of Trisomy 13/18 by healthcare providers used directive language when describing the lethality, morbidity and burden of the condition. Language included terms such as “incompatible with life” and comments on burden to other family members. Healthcare providers can assist families that receive a prenatal diagnosis of Trisomy 13 or 18 by providing up-to-date written resources and connecting them with support groups for parents who have received a similar diagnosis. Our study found that involving genetic counselors in the prenatal care of these patients is likely beneficial. 相似文献
980.
Miriam Lobo Sara López-Tarruella Soledad Luque Santiago Lizarraga Carmen Flores-Sánchez Oscar Bueno Jesús Solera Yolanda Jerez Ricardo González del Val María Isabel Palomero María Cebollero Isabel Echavarría Gabriela Torres Miguel Martín Iván Márquez-Rodas 《Journal of genetic counseling》2018,27(4):854-862
The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU. 相似文献