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21.
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 总被引:6,自引:7,他引:6
Roepman R; van Duijnhoven G; Rosenberg T; Pinckers AJ; Bleeker-Wagemakers LM; Bergen AA; Post J; Beck A; Reinhardt R; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(7):1035-1041
The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-
linked RP (XLRP), has been mapped previously to a chromosome interval of
less than 1000 kbp between the DXS1110 marker and the OTC locus at
Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization
(YRH)', we have recently identified a small XLRP associated microdeletion
in this interval, as well as several putative exons including the 3' end of
a gene that was truncated by the deletion. cDNA library screening and
sequencing of a cosmid centromeric to the deletion has now enabled us to
identify numerous additional exons and to detect several point mutations in
patients with XLRP. The predicted gene product shows homology to RCC1, the
guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our
findings suggest that we have cloned the long-sought RP3 gene, and that it
may encode the GEF of a retina-specific GTP-binding protein.
相似文献
22.
Lundberg S; Rasmussen C; Berg AA; Lindblom B 《Human reproduction (Oxford, England)》1998,13(6):1490-1492
Falloposcopy is a transvaginal microendoscopic technique to explore the
human Fallopian tube from the uterotubal ostium to the fimbrial end.
Falloposcopy provides a unique possibility to visualize endotubal disease
and may be used therapeutically for removal of debris and for cutting down
filmy intraluminal adhesions. To assess the clinical performance of
falloposcopy as part of an infertility investigation, a total of 43 women
scheduled for laparoscopy as part of an investigation of infertility had a
falloposcopy performed in conjunction with the laparoscopy. All women were
investigated at Danderyd Hospital, Stockholm and Akademiska Hospital,
Uppsala, during 1995 and 1996. Images from the endosalpinx were obtained in
26 of 43 women (60.5%). In 10 women (23.3%), it was possible to obtain
images from both tubes. No images were of sufficient quality to describe
the entire tubal mucosa in detail. Falloposcopy represents a unique tool
for visualization of endotubal disease and may provide a valuable
instrument for in-vivo exploration of tubal physiology. However, certain
technical problems limit the usefulness of this method in routine clinical
practice. These technical problems have to be solved before falloposcopy
can achieve a central position in investigation and treatment of tubal
disease.
相似文献
23.
Blanton RE Salam EA Ehsan A King CH Goddard KA 《European journal of human genetics : EJHG》2005,13(5):660-668
A minority of individuals infected with the parasite Schistosoma mansoni develops hepatic fibrosis. HLA studies in Egypt and a candidate gene search in a Sudanese population indicate that the host's genetics contribute to disease susceptibility. In an Egyptian community, 32.7% of individuals 11 years and older had significant fibrosis by WHO ultrasound criteria. Linkage to 10 candidate genes was tested using 89 affected sibling pairs from 40 pedigrees in this community. The candidates included genes that initiate fibrosis, participate in collagen synthesis, or control collagen degradation. Two to four single-nucleotide polymorphisms (SNPs) were genotyped per locus, and 188 individuals were genotyped at 48 markers. Model-free modified Haseman-Elston analysis identified linkage to a SNP in the interferon gamma receptor locus (P=0.000001). There was also weak evidence for linkage to the interleukin 13-4 region and tissue growth factor beta 1. 相似文献
24.
Comparison of the human and mouse genes encoding the telomeric protein, TRF1: chromosomal localization, expression and conserved protein domains 总被引:11,自引:0,他引:11
25.
Abdel Hakim Saad Rashika El Ridi Suher Zada Nasri Badir 《Developmental and comparative immunology》1984,8(4):835-844
Lymphocytes of thymus, spleen, peripheral blood (PB) and bone marrow (BM) collected from adult lizards, were cultured for 24 hr in the presence of 10?3M hydrocortisone acetate (HC) in order to assess the effect of in vitro HC on lizard T and B cell viability. The results indicated that HC induced stepwise, time-dependent mortality of the majority of thymocytes carrying T cell specific antigen(s) (TSA), 30–50% of T cells of spleen, PB and BM, and of a proportion of splenic B lymphocytes. Administration of 1 mg/g body weight HC to adult . lead to depletion of all TSA+ thymocytes. In contrast, T lymphocytes in the peripheral lymphoid compartments revealed both sensitivity and resistance to HC; similarly, B lymphocytes constituted susceptible and resistant subpopulations. 相似文献
26.
Babiker A Darbyshire J Pezzotti P Porter K Prins M Sabin C Walker AS;CASCADE Collaboration 《Journal of acquired immune deficiency syndromes (1999)》2003,32(3):303-310
The effect of HIV infection duration and CD4 cell count on short-term CD4 response was evaluated in treatment-naive seroconverters using logistic regression adjusted for CD4 count before highly active antiretroviral therapy (HAART) as well as for exposure category, age, sex, acute infection, and cohort. This association was also investigated in pretreated seroconverters, further adjusting for prior therapy. CD4 response (increase of >100 cells/microL at 6 months) was more likely if HAART was initiated in the first year following seroconversion (OR = 1.50 [95% CI: 1.07-2.10] compared with 2-5 years). There was no improvement in response from initiating HAART with CD4 count >350 cells/microL compared with 201 to 350 cells/microL. Below 200 cells/microL, however, the chance of a CD4 response appeared to be reduced (OR = 0.72 [95% CI: 0.40-1.28] for 0-200 cells/microL compared with 201-350 cells/microL, P = 0.26). Results were similar for pretreated individuals. Further, in pretreated individuals, a CD4 response was less likely if the CD4 nadir was lower than the pre-HAART CD4 count (OR = 0.18 [95% CI: 0.10-0.36] for >150 cells/microL difference between nadir and pre-HAART CD4 count vs. no difference, P < 0.001). Given the limitations of observational studies, particularly the inability to control for unmeasured confounders, these findings suggest that the initiation of HAART within the first year following seroconversion appears to improve short-term immunologic response. After that time, there is little to be gained in terms of short-term response from initiating HAART before reaching a CD4 count of 200 cells/microL. 相似文献
27.
High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions 总被引:5,自引:3,他引:5
Baumer A; Dutly F; Balmer D; Riegel M; Tukel T; Krajewska-Walasek M; Schinzel AA 《Human molecular genetics》1998,7(5):887-894
Interstitial chromosomal deletions at 22q11.2 and 7q11.23 are detected in
the vast majority of patients affected by CATCH 22 syndromes and the
Williams-Beuren syndrome, respectively. In a group of 15 Williams- Beuren
patients, we have shown previously that a large number of 7q11.23 deletions
occur in association with an interchromosomal rearrangement, indicative of
an unequal crossing-over event between the two homologous chromosomes 7. In
this study, we show that a similar mechanism also underlies the formation
of the 22q11.2 deletions associated with CATCH 22. In eight out of 10
families with a proband affected by CATCH 22, we were able to show that a
meiotic recombination had occurred at the critical deleted region based on
segregation analysis of grandparental haplotypes. The incidences of
crossovers observed between the closest informative markers, proximal and
distal to the deletion, were compared with the expected recombination
frequencies between the markers. A significant number of recombination
events occur at the breakpoint of deletions in CATCH 22 patients (P =
2.99x10(-7)). The segregation analysis of haplotypes in three- generation
families was also performed on an extended number of Williams-Beuren cases
(22 cases in all). The statistically significant occurrence of meiotic
crossovers (P = 4.45x10(-9)) further supports the previous findings. Thus,
unequal meiotic crossover events appear to play a relevant role in the
formation of the two interstitial deletions. The recurrence risk for
healthy parents in cases where such meiotic recombinations can be
demonstrated is probably negligible. Such a finding is in agreement with
the predominantly sporadic occurrence of the 22q11.2 and 7q11. 23
deletions. No parent-of-origin bias was observed in the two groups of
patients with regard to the origin of the deletion and to the occurrence of
inter- versus intrachromosomal rearrangements.
相似文献
28.
Xianzheng Zhou Frank Momburgu Tianmin Liuu Ussama M. Abdel Motalu Mikael Jondalu Günter J. Hmmerlingu Hans-Gustaf Ljunggren 《European journal of immunology》1994,24(8):1863-1868
In the class II region of the major histocompatibility complex (MHC), four genes implicated in MHC class I-mediated antigen processing have been described. Two genes (TAP 1 and TAP 2) code for multimembrane-spanning ATP-binding transporter proteins and two genes (LMP 2 and LMP 7) code for subunits of the proteasome. While TAP 1 and TAP 2 have been shown to transport antigenic peptides from the cytosol into the endoplasmic reticulum, where the peptides associate with MHC class I molecules, the role of LMP 2/7 in antigen presentation is less clear. Using antigen processing mutant T2 cells that lack TAP 1/2 and LMP 2/7 genes, it was recently shown that expression of TAP 1/2 alone was sufficient for processing and presentation of the influenza matrix protein M1 as well as the minor histocompatibility antigen HA-2 by HLA-A2. To understand if presentation of a broader range of viral antigens occurs in the absence of LMP 2/7, we transfected T2 cells with TAP 1, TAP 2 and either of the H-2Kb, Db or Kd genes and tested their ability to present vesicular stomatitis vires and influenza virus antigens to virus-specific cytotoxic T lymphocytes. We found that T2 cells, expressing TAP 1/2 gene products, presented all tested viral antigens restricted through either the H-2Kb, Db or Kd class I molecules. We conclude that the proteasome subunits LMP 2/7 as well as other gene products in the MHC class II region, except from TAP 1/2, are not generally necessary for presentation of a broader panel of viral antigens to cytotoxic T cells. However, the present results do not exclude that LMP 2/7 in a more subtle way may, or in rare cases completely, affect processing of antigen for presentation by MHC class I molecules. 相似文献
29.
R. H. Bahar H. M. Abdel Dayem M. Mohammed M. Simo G. Ziada C. Costantinides A. R. Suhali 《European journal of nuclear medicine and molecular imaging》1987,12(11):542-545
Pulmonary hypertension (PH) produces strain followed by hypertrophy and later dilatation of the right ventricle (RV) and pulmonary artery. The signs and symptoms are nonspecific. There is a need for a noninvasive sensitive way to diagnose PH. The purpose of this study is to evaluate phase abnormalities in radionuclide MUGA studies of patients with referred diagnosis of PH. In a retrospective analysis of 44 patients who had a radionuclide multigated study (MUGA) and contrast ventriculography (CV), 19 had high mean pulmonary pressure (over 20 mmHg) and a high pulmonary vascular resistance index (over 2.0). In 15 patients, a delayed phase segment in the RV corresponding to the pulmonary infundibulum and pulmonary conus was noted The Pulmonary Tongue sign (PT), 12 had PH (True positive) and 3 did not (false positive) on CV. No PT was seen in the remaining 29 patients, only 7 of them had PH (False negative). The sensitivity, specificity and accuracy of the PT sign in detecting PH was 80%, 72% and 77% respectively. The number of patients was too small to calculate the correlation of the grade of PT with the severity of PH. We conclude that The Pulmonary Tongue sign on a MUGA study is clinically useful in detecting PH.This project is supported by research project MLNO13 and funded by research Council, Kuwait University 相似文献
30.
Ahmed Hassan Albelbeisi Ali Albelbeisi Abdel Hamid El Bilbeisi Mahmoud Taleb Amirhossein Takian Ali Akbari-Sari 《Ethiopian journal of health sciences》2021,31(1):73
BackgroundDespite the huge numbers of the universally produced and employed protocols, the adherence with them is still low to moderate in the healthcare settings. This study was employed to assess the attitudes of Palestinian healthcare professionals in Gaza Strip to health education and counseling on healthy behaviours protocol (WHO-PEN Protocol 2), for patients with non-communicable diseases in the Ministry of Health primary healthcare centers.MethodsThis cross-sectional study was conducted with a census sample of all governmental family physicians and nurses (n=175). The study questionnaire was developed based on Cabana theoretical framework. The Arabic version questionnaire was developed based on the cross-cultural adaptation framework. The psychometric properties of the Arabic version questionnaire was finally evaluated.ResultsThe psychometric properties of the Arabic version questionnaire showed good construct validity and internal consistency reliability. The overall adherence level to WHO-PEN Protocol 2 was 70.0, SD=6.9. The main perceived barriers were lack of incentive, patients'' factors, and lack of time. In general, most of healthcare professional respondents had a positive attitude toward the protocol, but this attitude was not predictor to protocol adherence.ConclusionThe good validity and reliability of the questionnaire can provide support for the accuracy of the study results. Varied implementation strategies targeting the major barriers derived from the study are extremely required for addressing the lack of incentives, patients'' factors and time constraints. 相似文献