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51.
Okamoto N Toribe Y Nakajima T Okinaga T Kurosawa K Nonaka I Shimokawa O Matsumoto N 《Journal of human genetics》2002,47(10):0556-0559
Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation,
and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of
the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed congenital fiber
type disproportion (CFTD) myopathy. This is the first case report of 1p36 deletion associated with CFTD. This association
may indicate that one of the CFTD loci is located at 1p36. Ski proto-oncogene −/− mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome.
Because fluorescent in situ hybridization analysis revealed that the human SKI gene is deleted in our patient, some genes in 1p36, including SKI proto-oncogene, may be involved in muscle hypotonia and delayed motor development in this syndrome.
Received: March 4, 2002 / Accepted: July 7, 2002 相似文献
52.
Apoptosis with FasL+ cell infiltration in the periphery and thymus of corrected autoimmune mice. 下载免费PDF全文
T Kobata K Takasaki H Asahara N M Hong K Masuko-Hongo T Kato S Hirose T Shirai N Kayagaki H Yagita K Okumura K Nishioka 《Immunology》1997,92(2):206-213
Fas (CD95) ligand (L) is a death factor that binds to its receptor, Fas, and induces apoptotic cell death, a crucial process in immunological tolerance. gld (generalized lymphoproliferative disorder) mice, which have a point mutation in the FasL gene, develop spontaneous systemic autoimmune syndromes characterized by hypergammaglobulinaemia and lymphoid hyperplasia owing to accumulation of abnormal B220+ CD3+ cells. Transplantation of wild-type (wt) bone marrow cells into old gld mice on the same strain background results in normalization of autoimmune syndromes. We characterized the cellular mechanisms (functionally and histologically) of the above phenomena in gld mice after bone marrow transplantation (BMT) to determine the role of apoptosis via Fas/FasL interactions in inducing and maintaining self-tolerance in vivo. Activated splenocytes from wt and BMT (wt to gld) mice showed significant cytotoxic activity against Fas transfectant cells while those from BMT (gld to gld) mice did not. Cells in the thymus, spleen and lymph nodes of gld mice uniformly upregulated Fas expression and were sensitive to Fas-mediated apoptosis compared with those in wt mice. Cells sensitive to Fas-mediated apoptosis in gld mice resided not only among abnormal B220+ CD3+ cells but also among conventional lymphocytes. More importantly, histological analysis revealed that cells in the spleen, lymph nodes and thymus frequently underwent apoptosis with infiltration of FasL+ cells in BMT (wt to gld) mice compared with BMT (gld to gld) mice. Our results indicated that apoptosis via Fas/FasL interactions can directly eliminate pathogenic cells responsible for autoimmunity in the periphery and possibly in the thymus in vivo. 相似文献
53.
NZB mice were found to produce natural thymocytotoxic autoantibody in high prevalence and antibody titre. This autoantibody in NZB mice was detectable by the cytotoxicity test at both 4°C and 37°C; the prevalence and antibody titre were generally higher at 4°C. Mice of other strains also produced natural thymocytotoxic autoantibody although in lower prevalence and antibody titre and in some instances the activity was greater at 37°C than at 4°C. Natural thymocytotoxic autoantibody in NZB mice reacted equally with the thymocytes of virtually all strains of mice tested but to a lesser degree with the thymocytes of SJL/J mice. A serum pool obtained from old NZB mice had an extremely high titre of natural thymocytotoxic autoantibody (1:1024 at 4°C). Nevertheless, the cells in lymph nodes, spleen and blood leucocytes were only partially sensitive to this serum pool, and bone marrow cells were for the most part negative. By absorption, the antigen reacting with natural thymocytotoxic autoantibody was found in thymus, lymph node, spleen and brain of adult mice, thymus of newborn mice and some leukaemias. Natural thymocytotoxic autoantibody in NZB mice was an IgM-globulin as determined by sensitivity to 2-mercaptoethanol treatment and by Sephadex G-200 column chromatography in contrast to other natural antibodies (antinuclear, antierythrocyte and G antibodies) of IgG-globulin class. NZB mice also produced natural antibodies against thymocytes of the rat and the hamster; these antibodies were species-specific and did not react with the thymocytes of any but the homologous species. 相似文献
54.
Takamatsu S Teramoto K Kawamura T Kudo A Noguchi N Irie T Ochiai T Kumagai J Koike M Arii S 《Pathology international》2004,54(6):440-445
Intrabiliary growth of liver metastases from colorectal cancer has rarely been studied. A surgically resected case of a metastatic liver tumor with prominent intrabiliary growth derived from rectal cancer is reported. The patient was a 62-year-old man who had received a low anterior resection for rectal cancer in March 2000. He was re-admitted due to obstructive jaundice in January 2003, and was diagnosed with hepatic malignancy in segment II of the liver with an intrabiliary tumor extending from the intrahepatic bile duct of segment II to the common hepatic duct. He underwent a left hepatectomy, a partial resection of segment VI, and an extrahepatic bile duct resection with reconstruction of the biliary tract. In the resected specimen, there were whitish tumors of 3 cm and 1.5 cm in diameter in segments II and VI, respectively, and an intrabiliary tumor originating from the main tumor in segment II extended to the common hepatic duct. Both the liver tumors and the intrabiliary tumor consisted of a well- to moderately differentiated adenocarcinoma, which showed the same histological features as the rectal cancer. The immunohistochemical findings strongly supported that these tumors, including the intrabiliary growth, were liver metastasis from the rectal cancer. The intrabiliary invasion and growth of metastatic liver tumors has generally been overlooked, notwithstanding their frequently observed biological behavior. The present case is informative, and further investigation into this type of metastatic liver tumor may be warranted. 相似文献
55.
Prevention of autoimmune symptoms in autoimmune-prone mice by elimination of B-1 cells 总被引:4,自引:1,他引:4
Murakami Masao; Yoshioka Hideyuki; Shirai Toshikazu; Tsubata Takeshi; Honjo Tasuku 《International immunology》1995,7(5):877-882
Our recent studies on an autoantibody-transgenic mouse linedemonstrated that peritoneal B-1 cells are responsible for autoimmunesymptoms. However, whether B-1 cells in the peritoneum are generallyinvolved in the pathogenesis of autoimmune disease remains controversial.To test the possible involvement of peritoneal B-1 cells inautoimmune symptoms of autoimmune-prone NZB mice, we eliminatedthe peritoneal cells by hypotonic shock with repeated I.p. injectionof distilled water every 7 days into neonatal or 8-week-oldNZB mice. By this treatment, B-1 cells, which self- renew withinthe peritoneal cavity, are expected to be preferentially eliminated,while other peritoneal cells can be easily supplied from bonemarrows after this treatment indeed, in distilled water-treatedold NZB mice, the number of B-1 cells decreased in spleen aswell as in lamina propria of the gut but the numbers of conventionalB cells and T cells did not change. Moreover, the productionof autoantibodies against erythrocytes significantly decreasedand the occurrence of autoimmune hemolytic anemia was reducedin 12-month-old treated NZB mice. Similarly, the eliminationof peritoneal cells of NZB/NZW (NZB/W) F1; mice by water injectiondecreased anti-DNA IgG antibodies in the sera and reduced thepathological changes of the kidney. These results suggest thatperitoneal B-1 cells may be a source of autoantibody-producingcells in autoimmune diseases of NZB and NZB/W F1; mice. 相似文献
56.
Satoru Takahashi Tomoyuki Shirai Kumiko Ogawa Katsumi Imaida Chikao Yamazaki Akira Ito Kazuo Masuko Nobuyuki Ito 《Pathology international》1993,43(11):674-682
Step-sections of 96 whole kidneys from 50 chronic hemodialysis patients were subjected to a histopathological and quantitative investigation with regard to the development of renal neoplastic lesions. The range of hemodialysis duration was from 1 to 222 months. A total of 349 renal cell adenomas were found in 41 cases (82%). They were commonly multiple and present bilaterally. Renal cell carcinomas were evident in four cases (8%), with hemodialysis durations of 54, 57, 112 and 222 months. The incidence of adenomas increased in a hemodialysis duration-dependent manner, indicating a high risk of renal cell tumor development in chronic hemodialysis patients. Furthermore, acquired cystic disease of the kidney (ACDK) was also observed in 12 cases (24.0%), where the mean hemodialysis period was 143.4 ± 48.0 months. This value was significantly longer than that of non-ACDK cases (P < 0.001). There was, however, no clear relationship between the appearance of ACDK and renal cell tumors. The present results underline the necessity for attention to possible neoplasia of the kidney in patients on long-term hemodialysis. 相似文献
57.
The pattern of renal glomerular lesions in systemic lupus erythematosus (SLE)-prone NZB x NZW (B/W) F1 mice shows an age-associated transition, as is often seen in human lupus nephritis during the clinical course of the disease. Observations revealed that the earliest lesions were confined to the mesangium associated mainly with IgM deposits, and to a lesser degree with IgG. In mice over 5 months of age, the lesions extended gradually to the capillary wall with fine granular subepithelial deposits of IgG, but not of IgM. The ultimate pattern of the glomerular lesion was one of diffuse proliferation with diffusely distributed deposits of both IgG and IgM in the mesangium and along the capillary wall. Even at this stage, subepithelial deposits were composed of IgG, but not of IgM. The pattern of glomerular deposits of endogenous retroviral envelope glycoprotein gp70, which is highly anionic, virtually coincided with that of IgG. Taking these findings collectively, it is suggested that the progression of glomerular lesions in B/W F1 mice depends largely on the age-associated appearance of retroviral gp70-IgG anti-gp70 immune complexes in the circulation and their deposition along peripheral subepithelial, and eventually subendothelial areas. 相似文献
58.
Takeshi Tana Nobuhiro Kamikawaji Christopher J. Savoie Tohru Sudo Yurika Kinoshita T. Sasazuki 《Journal of human genetics》1998,43(1):14-21
Susceptibility to a series of autoimmune diseases is strongly associated with particular HLA class II alleles. Identification
of T cell clones and antigenic epitopes bound by HLA class II molecules involved in autoimmune diseases is critical to understanding
the etiology of these HLA class II-associated diseases. However, establishment of T cell clones in autoimmune diseases is
difficult because the antigenic peptides are unknown. Peptide library methods which include all possible peptide sequences
offer a potentially powerful tool for the detection of cross-reactive antigenic peptides recognized by T cells. Here, we reduced
the number of peptides per mixture by utilizing the known binding motifs of peptides for the HLA-DRB1*0405 molecule and evaluated
the effectiveness of this library design. Each library mixture evoked a strong proliferative response in the unprimed peripheral
blood lymphocytes (PBL) from HLA-DRB1*0405-positive donors but little or no response in the PBL from HLA-DRB1*0405-negative donors. The library also detected antigenic peptides that activated three antigen-specific T cell lines restricted
by HLA-DRB1*0405, with different specificities. The motif-based approach thus presents a powerful method for monitoring T
cells in large, heterogeneous T cell populations and is useful for the identification of the mimic peptide epitopes of T cell
lines and clones.
Received: October 3, 1997 / Accepted: October 23, 1997 相似文献
59.
Kazuhiro Tsukamoto Nobutaka Ohta Yasumasa Shirai M. Emi 《Journal of human genetics》1998,43(4):278-279
Tumor necrosis factor alpha (TNFα) in activated monocytes exerts cytotoxic activity and has a variety of other biological
effects. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clone containing the gene located at 6p21.3.
High heterozygosity (0.80) makes this polymorphism a useful marker in the genetic study of disorders affecting immunological
response and cell differentiation.
Received: June 2, 1998 / Accepted: June 24, 1998 相似文献
60.
Nobukatsu Nemoto Yu Nagase Jiro Abe Hiroshi Matsushima Yasuo Shirai Nobuo Takamiya 《Macromolecular chemistry and physics.》1995,196(7):2237-2249
Side-chain functionalized polysiloxanes were prepared via polymer-analogous esterification of poly[(3-chloroformylpropyl)methylsiloxane] with 4-(4-hydroxyphenylazo)nitrobenzene ( P1 ), 4-[4-(ω-hydroxyalkyloxy)phenylazo]nitrobenzene ( P2 – P4 ), 4-{4-[N-(2-hydroxyethyl)-N-methyl]anilinoazo}nitrobenzene ( P5 ), 4-(4-hydroxypiperidino)nitrobenzene ( P6 ), or 4-[4-(2-hydroxyethyl)piperidino]nitrobenzene ( P7 )., P1 , P3 , P4 and P5 exhibit liquid crystallinity, as deduced from differential scanning calorimetry, polarized microscopic observations and X-ray diffraction measurements. The liquid-crystalline phase of P1 and P5 is a nematic phase, and that of P3 and P4 is a smectic one. The second harmonic generation (SHG) measurement of a spin-coated film of P1 was carried out by the Maker fringe method using a Q-switched Nd:YAG laser (1064 nm). The SHG profile after the heat treatment of a spin-coated film suggests a perpendicular orientation of the mesogenic molecules to the glass substrate. The SH light intensity of a corona-poled film was 20-fold higher than that of a film which was only heated, though no differences were observed in their UV-vis absorption spectra. These findings suggest that the mesogenic-molecular dipole moments are aligned to the same direction in the crystalline or liquid-crystalline phase by a poling treatment. 相似文献