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Carlos J. Gallego Matthew L. Perez Amber Burt Laura M. Amendola Brian H. Shirts Colin C. Pritchard Fuki M. Hisama Robin L. Bennett David L. Veenstra Gail P. Jarvik 《Journal of genetic counseling》2016,25(3):515-519
Next generation sequencing (NGS) gene panels are increasingly used in medical genetics clinics for the evaluation of common inherited cancer syndromes, but the clinical efficacy of these tests, and the factors driving clinical providers to order them are unclear. We conducted a patterns-of-care study to compare patients evaluated with NGS gene panels with a reference group. We abstracted demographic, socioeconomic, and clinical information in a retrospective cohort of patients referred to a large medical genetics clinic for evaluation of inherited colorectal cancer and polyposis syndromes. Patients tested with NGS gene panels were more likely to be insured compared to the reference group (85.3 % vs. 69.2 %, p = 0.0068),less likely to have prior tumor tissue testing (29.4 % vs. 54.3 %, p = 0.0004), and less likely to have an abnormal tumor tissue test result (46.7 % vs. 74.5 %, p = 0.01). No significant differences were found between groups in age, gender, race, employment status, personal history of colorectal cancer, or proportion of patients fulfilling Lynch syndrome clinical criteria. Patients with NGS testing were less likely to have a pathogenic/likely pathogenic variant detected (13.7 % vs. 31.9 %, p = 0.002). Patients referred for NGS testing to evaluate inherited colorectal cancer/polyposis risk appear to undergo tumor tissue testing less frequently than non-NGS testing patients. Further studies are needed to assess the most effective and cost-effective approach to genomic diagnosis in this patient population. 相似文献
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Bonnie J. Baty Angela Trepanier Robin L. Bennett Claire Davis Lori Erby Catriona Hippman Barbara Lerner Anne Matthews Melanie F. Myers Carol B. Robbins Claire N. Singletary 《Journal of genetic counseling》2016,25(4):625-634
There are currently multiple paths through which genetic counselors can acquire advanced knowledge and skills. However, outside of continuing education opportunities, there are few formal training programs designed specifically for the advanced training of genetic counselors. In the genetic counseling profession, there is currently considerable debate about the paths that should be available to attain advanced skills, as well as the skills that might be needed for practice in the future. The Association of Genetic Counseling Program Directors (AGCPD) convened a national committee, the Committee on Advanced Training for Certified Genetic Counselors (CATCGC), to investigate varied paths to post-master’s training and career development. The committee began its work by developing three related grids that view career advancement from the viewpoints of the skills needed to advance (skills), ways to obtain these skills (paths), and existing genetic counselor positions that offer career change or advancement (positions). Here we describe previous work related to genetic counselor career advancement, the charge of the CATCGC, our preliminary work in developing a model through which to view genetic counselor advanced training and career advancement opportunities, and our next steps in further developing and disseminating the model. 相似文献
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Masculinity, femininity, type A behavior, and psychosocial adjustment in medical students 总被引:1,自引:0,他引:1
The freshman class of a midwestern medical school completed measures of masculinity and femininity, Type A behavior, and a variety of dependent variables concerning psychological well-being, adjustment, and interpersonal satisfaction. Appropriate statistical treatment of the data revealed strong and consistent masculinity effects on neuroticism, depression, self-esteem, confidence, hedonic capacity, locus of control, and relationship satisfaction. Femininity main effects varied in number as a function of the statistical method employed and involved a more diverse group of variables than is typically reported. Additive androgyny formulations of mental health were supported; balance androgyny formulations were not. No evidence for a Type A X Masculinity effect on adjustment was found. Discussion focuses on the correct interpretation of masculinity and femininity scales, comparability of analysis of variance (ANOVA) and multiple regression statistical analyses, and the viability of the concept of androgyny. 相似文献
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This commentary discusses a number of pertinent concerns that were raised in this special series on subtyping in obsessive-compulsive disorders (OCD). The central question addressed in the three articles in the series is whether a better subtype classification of OCD could be developed if it is based on type of faulty cognition as well as symptom presentation. It is concluded that a more cognitive approach to OCD subtyping may not address many of the problems inherent in subtype research, nor will the development of special manualized treatment protocols for OCD subtypes necessarily yield significant improvements in treatment effectiveness. An alternative to OCD subtyping based on a categorical perspective is some form of profiling that recognizes the dimensional nature of OCD symptom and cognition variables. 相似文献
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Adolescence is a developmental transition period during which there are profound transformations in emotional, cognitive, and behavioral systems. Despite being a time of rapid development and increasing rates of suicidality, limited research has examined possible interrelationships. Through the use of a case study, this paper illustrates the role of developmental factors in a teenage girl's experience becoming and overcoming being suicidal. The processes of cognitive development, identity formation, and autonomy-seeking are discussed within the context of her story. 相似文献