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排序方式: 共有9443条查询结果,搜索用时 31 毫秒
61.
Laura McGillis Nimish Mittal Daniel Santa Mina Joyce So Medha Soowamber Aliza Weinrib Leslie Soever Dmitry Rozenberg Louis Liu Yvonne Tse Joel Katz George S Charames Kieran Murphy Peter Vadas Maxwell P Slepian Scott Walsh Lindsay Wilson Arnon Adler Alyssa Franzese Laura Hussey Dayna‐Lynn Nevay Juan Guzman Hance Clarke 《American journal of medical genetics. Part A》2020,182(3):484-492
The new 2017 diagnostic criteria for hypermobile Ehlers–Danlos Syndrome (hEDS) provide a framework for diagnosing hEDS but are more stringent than the previous Villefranche criteria. Our clinical experience at the GoodHope EDS clinic was that the 2017 criteria left many highly symptomatic patients without a diagnosis of hEDS. We conducted a retrospective cohort study to confirm our clinic experience and assess the accuracy of the 2017 diagnostic criteria for hEDS in patients who had a previous hEDS diagnosis based on the Villefranche criteria. Our study found that 15% (n = 20 of 131) of patients with a prior diagnosis of hEDS met the 2017 diagnostic criteria, and many of the traits used to distinguish hEDS were not significantly more frequent in patients who met 2017 criteria versus those who did not. In both groups objective systemic manifestations were found less frequently than subjective systemic manifestations. Beighton score (BS) as assessed by primary care practitioner was found to be higher than assessment by EDS practitioner in 81% (n = 74 of 91) of cases. Generalized joint hypermobility was confirmed in only 46% (n = 51 of 111) of patients who had a previous diagnosis of hEDS. Higher BS did not correlate with increased number of systemic manifestations in our cohort. Common comorbidities of hEDS were found with similar frequency in those who met 2017 criteria and those who did not. Based on our cohort, the 2017 hEDS diagnostic criteria require refinement to improve its diagnostic accuracy. 相似文献
62.
Reorganization of human cortical maps caused by inherited photoreceptor abnormalities 总被引:3,自引:0,他引:3
We describe a compelling demonstration of large-scale developmental reorganization in the human visual pathways. The developmental reorganization was observed in rod monochromats, a rare group of congenitally colorblind individuals who virtually lack cone photoreceptor function. Normal controls had a cortical region, spanning several square centimeters, that responded to signals initiated in the all-cone foveola but was inactive under rod viewing conditions; in rod monochromats this cortical region responded powerfully to rod-initiated signals. The measurements trace a causal pathway that begins with a genetic anomaly that directly influences sensory cells and ultimately results in a substantial central reorganization. 相似文献
63.
Fibrous hamartoma of infancy 总被引:1,自引:0,他引:1
Fibrous hamartoma of infancy is an uncommon fibroproliferative lesion that occurs only in infancy and childhood. The present case is unusual for the presence of two separate lesions, infiltration into the superficial muscle, infiltration and entrapment of nerves, and rapid recurrence after initial surgery. Despite these unusual and suspicious features, follow-up evaluations over the 15 months subsequent to the last resection showed no evidence of recurrence. 相似文献
64.
K. C. Worley E. A. Lindsay W. Bailey J. Wise E. R. B. McCabe A. Baldini 《American journal of medical genetics. Part A》1995,57(4):615-619
Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring timeconsuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder. CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families, using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X-chromosomal deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available. © 1995 Wiley-Liss, Inc. 相似文献
65.
Diabetes mellitus in Huntington disease 总被引:8,自引:0,他引:8
There have been conflicting reports that individuals with Huntington disease (HD) are prone to abnormalities of carbohydrate metabolism. In this study information about the incidence and control of diabetes mellitus in 620 probands (278 living, 332 deceased) with HD and in their first and second degree relatives was obtained by questionnaire method from participants of the National HD Research Roster. Among the probands, 65 individuals (10.5%) were identified by the informant or verified by examination of Roster family records as diabetic. The prevalence of diabetes, particularly among those less than 50 years of age, is significantly greater than corresponding figures among the general U.S. Caucasian population (Scott 1977, Krolewski & Warram 1985). Incidence rates were not calculated because of ascertainment and other biases in the data. Results from the analysis of family data indicate that HD affected relatives of an HD proband with diabetes are 7 times as likely to have diabetes over the proband's non-HD relatives. A non-diabetic HD proband is equally likely to have an HD or non-HD relative with diabetes. 相似文献
66.
Fernando de Ory José Manuel Echevarría George Kafatos Cleo Anastassopoulou Nick Andrews Josephine Backhouse Guy Berbers Blazena Bruckova Daniel I Cohen Hester de Melker Irja Davidkin Giovanni Gabutti Louise M Hesketh Kari Johansen Sari Jokinen Lindsay Jones Anika Linde Elisabeth Miller Jo?l Mossong Anthony Nardone Maria Cristina Rota Andreas Sauerbrei Fran?ois Schneider Zahava Smetana Annedore Tischer Athanassios Tsakris Robert Vranckx 《Journal of clinical virology》2006,36(2):111-118
BACKGROUND: The aim of the European Sero-Epidemiology Network (ESEN2) is to harmonise the serological surveillance of vaccine-preventable diseases in Europe. OBJECTIVE: To allow comparison of antibody prevalence in different countries by standardising results into common units. STUDY DESIGN: For varicella zoster virus (VZV), a reference laboratory established a panel of 148 samples, characterised by indirect enzyme-immunoassay (ELISA), indirect immunofluorescence, and complement fixation test. Fifty-seven samples were also studied by the fluorescence antibody to membrane antigen test. The geometric mean of the antibody activity (GMAA) obtained from four ELISA determinations was used to characterise each sample of the panel as positive (GMAA: >100 mIU/ml), equivocal (GMAA: 50-100 mIU/ml) or negative (GMAA: <50 mIU/ml) for antibody to VZV (anti-VZV). Thirteen laboratories, using five different ELISA tests, tested the panel. RESULTS: Agreement with the reference laboratory was above 85% in all cases, and the R(2) values obtained from regression analysis of the quantitative results were always higher than 0.87. Finally, the regression equations could be used to convert national values into a common unitage. CONCLUSION: This study confirmed that results for anti-VZV obtained by different ELISA methods can be converted into common units, enabling the comparison of the seroprevalence profiles obtained in the participant countries. 相似文献
67.
Robert H Friedman Sandhya Wahi-Gururaj Joel Alpert Howard Bauchner Larry Culpepper Timothy Heeren Allen Singer 《Academic medicine》2004,79(11):1095-1102
PURPOSE: To understand the views of U.S. medical school deans about their primary care faculties. METHOD: In 2000, the authors mailed a questionnaire containing 43 multipart items to deans of 130 U.S. allopathic medical schools. The questionnaire assessed the deans' attitudes about and evaluation of primary care at their school and their school's efforts to strengthen it. Deans were asked to compare family medicine, general internal medicine, and general pediatrics with nonprimary care clinical departments at their schools. RESULTS: Of the 83 (64%) deans who responded, 82% reported their school had departments or divisions of family medicine, general internal medicine, and general pediatrics. Deans rated general internal medicine and general pediatrics higher than nonprimary care faculty on clinical expertise and productivity (p < .001) and family medicine equivalent to nonprimary care faculty. Deans rated all three primary care faculties superior to nonprimary care faculty for teaching skills (p < .001) and programs (p < .05), but lower than nonprimary care disciplines for research productivity (p < .01) and revenues (p < .001). They rated family medicine and general pediatrics lower for research skills (p < .001), but 73% of deans stated research was equally important for primary care and nonprimary care departments. Deans considered overall financial resources to be equivalent for primary care and nonprimary care departments, but 77% of deans felt primary care departments or divisions needed financial support from the medical school to survive. Most deans attempted to strengthen primary care by changing the curriculum to promote primary care and by providing financial support. CONCLUSIONS: Deans ranked primary care faculty high on clinical and teaching measures. Although they considered research to be an important activity for primary care faculty, they evaluated it low relative to nonprimary care departments. 相似文献
68.
The influence of the presence of the male on the ovulation process was investigated in ewes after oestrus control by progestagens (intravaginal fluorogestone acetate) and PMSG. Permanent contact with the rams throughout oestrus accelerates the ovulation and the appearance of the LH surge. The results suggest that the action of the presence of the male on ovulation is mediated by way of the ovulatory surge of LH. 相似文献
69.
Fava M Alpert JE Carmin CN Wisniewski SR Trivedi MH Biggs MM Shores-Wilson K Morgan D Schwartz T Balasubramani GK Rush AJ 《Psychological medicine》2004,34(7):1299-1308
BACKGROUND: Anxious depression, defined as Major Depressive Disorder (MDD) with high levels of anxiety symptoms, may represent a relatively common depressive subtype, with distinctive features. OBJECTIVE: The objective of this study was to determine the prevalence of anxious depression and to define its clinical correlates and symptom patterns. METHOD: Baseline clinical and sociodemographic data were collected on 1450 subjects participating in the STAR*D study. A baseline Hamilton Rating Scale for Depression (HAM-D) Anxiety/ Somatization factor score of > or =7 was considered indicative of anxious depression. The types and degree of concurrent psychiatric symptoms were measured using the Psychiatric Diagnostic Screening Questionnaire (PDSQ), by recording the number of items endorsed by study participants for each diagnostic category. MDD symptoms were assessed by clinical telephone interview with the 30-item Inventory of Depressive Symptomatology (IDS-C30). RESULTS: The prevalence of anxious depression in this population was 46 %. Patients with anxious MDD were significantly more likely to be older, unemployed, less educated, more severely depressed, and to have suicidal ideation before and after adjustment for severity of depression. As far as concurrent psychiatric symptoms are concerned, patients with anxious depression were significantly more likely to endorse symptoms related to generalized anxiety, obsessive compulsive, panic, post-traumatic stress, agoraphobia, hypochondriasis, and somatoform disorders before and after adjustment for severity of depression. Anxious-depression individuals were also significantly less likely to endorse IDS-C30 items concerning atypical features, and were significantly more likely to endorse items concerning melancholic/endogenous depression features. CONCLUSION: This study supports specific clinical and sociodemographic correlates of MDD associated with high levels of anxiety (anxious depression). 相似文献
70.
Heckers S Rauch SL Goff D Savage CR Schacter DL Fischman AJ Alpert NM 《Nature neuroscience》1998,1(4):318-323
Poor attention and impaired memory are enduring and core features of schizophrenia. These impairments have been attributed either to global cortical dysfunction or to perturbations of specific components associated with the dorsolateral prefrontal cortex (DLPFC), hippocampus and cerebellum. Here, we used positron emission tomography (PET) to dissociate activations in DLPFC and hippocampus during verbal episodic memory retrieval. We found reduced hippocampal activation during conscious recollection of studied words, but robust activation of the DLPFC during the effort to retrieve poorly encoded material in schizophrenic patients. This finding provides the first evidence of hippocampal dysfunction during episodic memory retrieval in schizophrenia. 相似文献