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91.
Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific form of syndromic deafness. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing, as well as many unexpected surprises. Although a large number of genes can clearly cause deafness, recessive mutations at a single locus, GJB2 or Connexin 26, account for more than half of all genetic cases in some, but not all populations. The high frequency may well be related to the greatly improved social, educational, and economic circumstances of the deaf that began with the introduction of sign language 300-400 years ago, along with a high frequency of marriages among the deaf in many countries. Similar mechanisms may account for the rapid fixation of genes for speech after the first mutations appeared 50,000-100,000 years ago. Molecular studies have shown that mutations involving several different loci may be the cause for the same form of syndromic deafness. Even within a single locus, different mutations can have profoundly different effects, leading to a different pattern of inheritance in some cases, or isolated hearing loss without the characteristic syndromic features in others. Most cases of genetic deafness result from mutations at a single locus, but an increasing number of examples are being recognized in which recessive mutations at two loci are involved. For example, digenic interactions are now known to be an important cause of deafness in individuals who carry a single mutation at the Connexin 26 locus along with a deletion involving the functionally related Connexin 30 locus. This mechanism complicates genetic evaluation and counseling, but provides a satisfying explanation for Connexin 26 heterozygotes who, for previously unknown reasons, are deaf. A specific genetic diagnosis can sometimes be of great clinical importance, as in the case of the mitochondrial A1555G mutation which causes gene carriers to be exquisitely sensitive to the ototoxic effects of aminoglycosides. This potentially preventable genetic-environmental interaction was the most common cause of genetic deafness in countries where these antibiotics were used indiscriminately in the past. Advances in genetic knowledge along with the use of cochlear implants have posed unique ethical dilemmas for society as well as the deaf community. Since most deaf children are born to hearing parents, it seems likely that deaf culture, and intermarriages among those born with deafness will recede during this century. Will future critics view this as one of the medical triumphs of the 21(st) Century, or as an egregious example of cultural genocide? On the other hand, genetics can provide empowering knowledge to the deaf community that for the first time can allow many deaf couples to know whether their children will be hearing or deaf even before they are conceived. 相似文献
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Walter N. Stone 《Group》2001,25(3):225-232
The author focuses on the application of Hopper's proposal of an additional basic assumption (I:A/M) using a model of clinicians' theories: bridging theory, psychological theory, and clinical theory (Michels, 1999). This paper will describe the potential for advances in understanding particular group formations seen in clinical practice and other settings. 相似文献
95.
Walter E. Bischof Sheri L. Reid Doug R. W. Wylie Marcia L. Spetch 《Attention, perception & psychophysics》1999,61(6):1089-1101
Pigeons and humans were required to discriminate coherent from random motion in dynamic random dot displays. Coherence and velocity thresholds were determined for both species, and both thresholds were found to be substantially higher for pigeons than for humans. The results are discussed with reference to differences in motion processing in mammals and birds. It is suggested that the inferior motion sensitivity of pigeons can be attributed to poorer spatiotemporal motion integration. 相似文献
96.
Jeffrey P. Walter Kyu Jin Yon Thomas M. Skovholt 《Journal of counseling and development : JCD》2012,90(2):191-199
The roles of previous psychological service use and social network variables in beliefs about psychological services were examined with 184 college students. Having friends and family members who used psychological services, being female, and having used psychological services positively related with beliefs about psychological services. Socioracial differences in the effects of previous use of psychological services and social network variables on students’ beliefs about psychological services were found. Suggestions for ways counselors can provide support to students are discussed. 相似文献
97.
Benjamin von Walter Daniel Wentzel Torsten Tomczak 《Journal of Occupational & Organizational Psychology》2012,85(1):116-135
Although applicant–employee fit has emerged as an important topic in recruitment research, little is known about how job seekers’ perceived similarity with the employees working for an organization affects employer attraction. In this research, we introduce temporal construal as a crucial moderating variable and study how the temporal decision context affects the weighting of applicant–employee fit. In particular, we argue that applicant–employee fit is construed in abstract, high‐level terms, and exerts a stronger influence when prospective applicants hold a distant time perspective. In contrast, instrumental attributes such as pay level represent low‐level construals and gain greater relevance when prospective applicants hold a near time perspective. Two experiments involving a student sample and a sample of unemployed job seekers supported these predictions. 相似文献
98.
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common autosomal recessive disorder due to mutations in the CYP21A2 gene. Since genetic counselors play a crucial role in educating families about inherited disorders, they need to have thorough knowledge regarding the pathophysiology of CAH especially the effects on the fetus, the complex genetics of this disorder, and the controversies surrounding experimental prenatal dexamethasone treatment. Affected female fetuses may have varying degree of virilization of the external genitalia. Starting in the 1980's, supraphysiologic glucocorticoid treatment was used to decrease the virilization of the external genitalia of affected female fetuses. However, recent clinical observations, animal studies and greater awareness of the details of human fetal adrenal physiology raise concerns regarding the safety of this prenatal treatment. We review the pathophysiology of CAH, the safety and ethical considerations of prenatal dexamethasone treatment and the views of multiple medical societies that conclude that this experimental therapy should only be done in prospective trials approved by ethical review boards. 相似文献
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Drebing CE Mueller L Van Ormer EA Duffy P LePage J Rosenheck R Drake R Rose GS King K Penk W 《Psychological services》2012,9(1):49-63
The current study provides naturalistic data documenting the pathways-to-care to vocational services for 155 veterans who were receiving some form of mental health care from the Veterans Health Administration and had a vocational need but were not currently enrolled in vocational services. Of the participants, 94.2% had recognized their vocational need, 80.6% reported that they or someone else had sought help to alleviate the need, and 77.4% had previously received some form of vocational services. The median length of the participants' vocational need was more than 4.2 years. Delays associated with recognition, help-seeking, and treatment entry all contributed to the overall delay in entering appropriate care. Filtering factors associated with quicker recognition, seeking help, and receiving services included diagnosis, level of disability, type of vocational need, and support from primary providers, family, and friends. The results provide information for designing interventions to improve service entry by adults with mental health problems and vocational needs. 相似文献