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51.
Robert J. Calsyn Gary A. Morse Robert D. Yonker Joel P. Winter Kathy J. Pierce Matthew J. Taylor 《Journal of community psychology》2003,31(4):339-348
Participants in this study suffered from severe mental illness and were homeless at baseline. They were given their choice of five different treatment programs. The current study investigated two major questions: (1) what is the impact of positive expectancies about the efficacy of the chosen program on number of contacts with the chosen program and client outcomes; and (2) what is the impact of positive views about nonchosen programs (alternative choice variables) on contact with the chosen program and client outcomes. Client outcomes assessed were psychotic symptoms, days homeless, and client satisfaction. Positive expectancy variables were the number of reasons for choosing a program and confidence that the program would help. Alternative choice variables were the number of nonchosen programs visited and the attractiveness of a nonchosen program. Only the number of reasons for choosing the program was significantly related to program contact with the chosen program. Both of the positive expectancy variables and program contact were significantly correlated with consumer satisfaction. In general, neither the positive expectancy variables nor the alternative choice variables predicted changes in psychotic symptoms nor days homeless. © 2003 Wiley Periodicals, Inc. J Comm Psychol 31: 339–348, 2003. 相似文献
52.
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance. 下载免费PDF全文
A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders. 相似文献
53.
Robin M. Winter Martin D'A. Crawfurd Hylton B. Meire Nan Mitchell 《Clinical genetics》1980,18(6):462-474
Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre-Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination. 相似文献
54.
D. Strauch W. Schmidt H. Winter 《Journal of molecular medicine (Berlin, Germany)》1957,35(17):869-871
Zusammenfassung An Hand von 15 Fällen bakteriologisch gesicherter Brucellosen wird der Nachweis geführt, daß die Methodik der quantitativen Agglutininabsättigung eine serologische Typendifferenzierung zwischen Brucella abortus und Brucella melitensis ermöglicht. Die beschriebene Methode kann routinemäßig in die Brucellosediagnostik eingebaut werden. 相似文献
55.
Yamamoto Raina; LI Xu; Winter Silke; Francke Uta; Kilimann Manfred W. 《Human molecular genetics》1995,4(2):265-268
Amphiphysin is a protein peripherally associated with synapticvesicles. It is expressed in many neurons, certain endocrinecell types, and spermatocytes. Autoantibodies against amphiphysinoccur in patients afflicted with a rare neurologic autoimmunedisease, paraneoplastic StiffMan syndrome. To providea basis for the understanding of antl-amphiphysin autolmmunity,we have cloned cDNAs and determined the primary structure ofhuman amphiphysin. Comparison with chicken amphiphysin definesdomains of low and high amino acid sequence conservation. Asa candidate for heritable disorders of the nervous system, endocrinetissues or male fertility, the human amphiphysin gene was mappedto chromosome 7, region p13p14. 相似文献
56.
Demuth I Wlodarski M Tipping AJ Morgan NV de Winter JP Thiel M Gräsl S Schindler D D'Andrea AD Altay C Kayserili H Zatterale A Kunze J Ebell W Mathew CG Joenje H Sperling K Digweed M 《European journal of human genetics : EJHG》2000,8(11):861-868
FANCG was the third Faconi anaemia gene identified and proved to be identical to the previously cloned XRCC9 gene. We present the pathogenic mutations and sequence variants we have so far identified in a panel of FA-G patients. Mutation screening was performed by PCR, single strand conformational polymorphism analysis and protein truncation tests. Altogether 18 mutations have been determined in 20 families - 97% of all expected mutant alleles. All mutation types have been found, with the exception of large deletions, the large majority is predicted to lead to shortened proteins. One stop codon mutation, E105X, has been found in several German patients and this founder mutation accounts for 44% of the mutant FANCG alleles in German FA-G patients. Comparison of clinical phenotypes shows that patients homozygous for this mutation have an earlier onset of the haematological disorder than most other FA-G patients. The mouse Fancg sequence was established in order to evaluate missense mutations. A putative missense mutation, L71P, in a possible leucine zipper motif may affect FANCG binding of FANCA and seems to be associated with a milder clinical phenotype. 相似文献
57.
How to use Chlamydia antibody testing in subfertility patients 总被引:1,自引:9,他引:1
Screening for tubal factor subfertility by means of Chlamydia antibody
testing (CAT) was introduced into the initial work-up of subfertile couples
several years ago. The results reported, however, are heterogeneous, and no
uniformity exists in cut-off levels of titres, or in definitions of tubal
factor subfertility. We performed a prospective cohort study to evaluate
the implications of varying the definitions of tubal pathology and of
modifying the cut-off levels on the clinical impact of CAT in predicting
tubal factor subfertility. In 227 consecutive patients who attended our
fertility clinic, the Chlamydia IgG antibody titre was determined and
related to tuboperitoneal abnormalities at laparoscopy as a reference
standard. According to received operating characteristic (ROC) curve
analysis, a titre of 16 is the optimum cut-off level. Increasing the
cut-off level improves specificity and positive likelihood ratio (LR+), at
the expense of sensitivity and negative LR (LR-). Changing the definition
of tubal factor subfertility from unspecified tuboperitoneal abnormalities
into extensive adhesions and/or bilateral distal tubal occlusion improves
LR+, LR- and kappa significantly. We conclude that CAT is more accurate in
predicting severe distal tubal pathology than unspecified tuboperitoneal
abnormalities. Although from a statistical point of view a titre of 16 is
the optimum cut-off level, from a clinical point of view 32 or 64 may be
preferable, depending on the aim of screening and the inception cohort.
相似文献
58.
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3 总被引:4,自引:2,他引:4
Cruts Marc; Backhovens Hubert; Wang Sheng-Yue; Van Gassen Geert; Theuns Jessie; De Jonghe Chris; Wehnert Anita; De Voecht Joke; De Winter Goedele; Cras Patrick; Bruyland Marc; Datson Nicole; Weissenbach Jean; Dunnen Johan T.den; Martin Jean-Jaques; Hendriks Lydia; Van Broeckhoven Christine 《Human molecular genetics》1995,4(12):2363-2371
Genetic linkage studies have indicated that chromosome 14q24.3harbours a major locus for early-onset (onset age <65 years)Alzheimer's disease (AD3). Positional cloning efforts have identifieda novel gene S182 or presenilin 1 as the AD3 gene. We have mappedS182 in the AD3 candidate region between D14S277 and D14S284defined by genetic linkage studies in the two chromosome 14linked, early-onset AD families AD/A and AD/B. We have shownthat S182 is expressed in lymphoblasts and have determined thecomplete cDNA in both brain and lymphoblasts by RT-PCR sequencing.S182 is alternatively spliced in both brain and lymphoblastswithin a putative phosphorylation site located 5' in the codingregion. We identified two novel mutations, Ile143Thr and Gly384Alalocated in, respectively, the second transmembrane domain andin the sixth hydrophilic loop of the putative transmembranestructure of S182. As families AD/A and AD/B have a very similarAD phenotype our observation of two mutations in functionallydifferent domains suggest that onset age and severity of ADmay not be very helpful predictors of the location of putativeS182 mutations. 相似文献
59.
Unified theory regarding A/P and M/L balance in quiet stance 总被引:26,自引:0,他引:26
Winter D. A.; Prince F.; Frank J. S.; Powell C.; Zabjek K. F. 《Journal of neurophysiology》1996,75(6):2334-2343
60.
A child with sclerocornea, short limbs, short stature, and distinct facial appearance 总被引:1,自引:0,他引:1
We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome. 相似文献