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51.
52.
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment 总被引:4,自引:0,他引:4
The antenatal variant of Bartter's syndrome is an autosomal recessive
kidney disease characterized by polyhydramnios, premature delivery,
hypokalemic alkalosis and hypercalciuria. It is genetically heterogeneous,
having been linked recently to mutations in an ATP- sensitive, renal outer
medullary K+channel, ROMK, and earlier to mutations in the Na-K-2Cl
co-transporter, NKCC2. We characterized four of the mutations reported in
three heterozygous ROMK variants of antenatal Bartter's and found that each
expressed a distinct phenotype in Sf9 cells. One mutation expressed normal
function and appears to be an allelic polymorphism. The other three
mutations produced channels with significantly reduced K+fluxes. However,
the mechanisms in each case were different and reflected abnormalities in
phosphorylation, proteolytic processing or protein trafficking. The
different mechanisms may be important in the design of appropriate therapy
for patients with this disease.
相似文献
53.
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection 总被引:1,自引:17,他引:1
Van Opstal D; Los FJ; Ramlakhan S; Van Hemel JO; Van Den Ouweland AM; Brandenburg H; Pieters MH; Verhoeff A; Vermeer MC; Dhont M; In't Veld PA 《Human reproduction (Oxford, England)》1997,12(4):682-686
Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic
sperm injection (ICSI) resulted in the detection of nine (12.7%) chromosome
aberrations including two cases of 47,XXY, four cases involving a 45,X cell
line and three autosomal trisomies. Molecular analysis of the parental
origin of the deleted or supernumerary chromosome was performed by using
polymorphic microsatellite markers. Six cases involving a sex chromosome
abnormality were found to be of paternal origin while the two trisomic
cases that could be analysed were of maternal origin. Two cases involved
the same infertile couple who had two consecutive ICSI pregnancies
terminated because of a chromosome abnormality. The replaced embryos in
both cases originated from a single batch of ICSI fertilized oocytes of
which part was used to initiate the first pregnancy and part was
cryopreserved and used to initiate the second pregnancy.
相似文献
54.
55.
Liver biopsy material of 22 in the serum HBsAg positive patients was tested with the fluorescent antibody technique for the localization of HBcAg and HBsAg in the liver tissue. Comparative studies were done with the following tissue preparation techniques: Cryostat technique, freeze drying, freeze substitution, cold ethanol paraffin embedding technique (SAINTE MARIE) and isolated liver cells. The investigations revealed the following results: 1. No HB-components could be detected with the cold ethanol paraffin embedding technique and freeze substitution. 2. Using the cryostat technique HBsAg could be demonstrated in 16/22 (cytoplasmatic localization) and HBcAg in 8/22 (nuclear localization). 3. With freeze drying HBsAg and HBcAg could be found in the same cases. The excellent tissue preparation allowed a correct localization of the HB-components to the cell structure. 4. In comparison to cryostat sections in isolated liver cells HBcAg could be demonstrated in 11/16 and HBcAg in 8/8 cases. 相似文献
56.
57.
Hess AD Thoburn C Chen W Miura Y Van der Wall E 《Clinical immunology (Orlando, Fla.)》2001,101(1):67-76
The N-terminal flanking region of the invariant chain peptide termed CLIP appears to have superagonistic properties interacting with the T cell receptor and the MHC class II molecule at or near the binding site for the bacterial superantigen Staphylococcal enterotoxin B (SEB). The present studies explored the hypothesis that the N-terminal segment of CLIP can augment the immunogenicity of cryptic "self" tumor-associated antigens. A chimeric construct of an MHC class II binding peptide from the c-erb oncogene (Her-2/neu) containing the N-terminal flanking region of CLIP elicited potent antitumor activity against a Her-2/neu-positive tumor in a rat model system. Comparatively, the unmodified parent peptide was ineffective. The induction of effective antitumor immunity, however, required presentation of the chimeric peptide construct on irradiated tumor cells or the peptide construct in concert with a Her-2/neu MHC class I-restricted peptide from Her-2/neu. As revealed by adoptive transfer studies, effective protective antitumor immunity in this setting required the CD4 T helper subset. Additionally, in vitro analysis revealed that immunization with the parent peptide resulted in a weak immune response to the unmodified peptide consisting of both type 1 (IL-2, IFN-gamma) and type 2 (IL-4, IL-10) cytokine-producing cells analyzed by RT-PCR (qualitative and quantitative) and by limiting dilution assay. Comparatively, immunization with the chimeric construct elicited a potent immune response to the parent peptide with predominantly type 1 cytokine-producing cells. Taken together, the results suggest that immunization with the chimeric Her-2/neu peptide induced protective antitumor immunity. Associated with this immunization strategy was the enhancement of a type 1 cytokine response. 相似文献
58.
1. Extracellular responses from post-ganglionic axons of pigeon and chick isolated ciliary ganglia were elicited by stimulation of the presynaptic nerve. Intracellular recordings were also obtained from newly hatched pigeon and chick ganglion cells. The fine structure of ganglia from pigeons of various ages was examined with the electron microscope.2. In ganglia from chick embryos and pigeons up to 10 days old, the extracellular response was unimodal with a long latency and could be blocked by the addition of D-tubocurarine (D-TC) or hexamethonium to the bathing solution. A bimodal extracellular response appeared in pigeons about 10 days after hatching. Only the second peak of the response could be blocked by D-TC or hexamethonium. The response recorded from 22 to 26-day-old pigeons was similar to that seen in the adult.3. The intracellular recordings from ganglion cells of 2-week-old pigeons exhibit two post-synaptic potentials elicited by presynaptic stimulation. The first post-synaptic potential appears to be due to current flow through the ganglion cell during the presynaptic action potential. The second is chemically mediated. In pigeons from 1 to 6 days old, only the second post-synaptic potential is observed.4. The presynaptic terminals in the 4-day-old birds were in the form of calyces. In pigeons 7 days old or older, boutons appeared. The boutons were presumably formed as a result of cleavage of calyciform nerve terminals. Myelin was seen first in the 7-day-old pigeon, was well developed in the 16-day-old bird, and persisted in the adults.5. In adult ganglia, the first component of the extracellular response decreased and was finally abolished after 10-12 hr of superfusion with Tyrode solution. The second component of the response increased concomitantly. The only anatomical change noted in the ganglia after soaking was the disruption and separation of the myelin lamellae from each other and from around the ganglion and presynaptic terminals.6. It is concluded that the myelin is necessary for electrical transmission in the pigeon ciliary ganglion. 相似文献
59.
KM Kanal NJ Hangiandreou AM Sykes HE Eklund PA Araoz JA Leon BJ Erickson 《Journal of digital imaging》2002,14(1):30-37
The aims of this work were to measure the accuracy of one continuous speech recognition product and dependence on the speaker's
gender and status as a native or nonnative English speaker, and evaluate the product's potential for routine use in transcribing
radiology reports. IBM MedSpeak/Radiology software, version 1.1 was evaluated by 6 speakers. Two were nonnative English speakers,
and 3 were men. Each speaker dictated a set of 12 reports. The reports included neurologic and body imaging examinations performed
with 6 different modalities. The dictated and original report texts were compared, and error rates for overall, significant,
and subtle significant errors were computed. Error rate dependence on modality, native English speaker status, and gender
were evaluated by performing ttests. The overall error rate was 10.3 +/- 3.3%. No difference in accuracy between men and women
was found; however, significant differences were seen for overall and significant errors when comparing native and nonnative
English speakers (P = .009 and P = .008, respectively). The speech recognition software is approximately 90% accurate, and
while practical implementation issues (rather than accuracy) currently limit routine use of this product throughout a radiology
practice, application in niche areas such as the emergency room currently is being pursued. This methodology provides a convenient
way to compare the initial accuracy of different speech recognition products, and changes in accuracy over time, in a detailed
and sensitive manner. 相似文献
60.
Involvement of nitric oxide synthase in the physiology and pathophysiology of facial nerve function and dysfunction 总被引:1,自引:0,他引:1
O. Michel Alexander Hess Martin Krolzig Eberhard Stennert Klaus Addick Wilhelm Bloch 《European archives of oto-rhino-laryngology》2000,257(4):188-192
To date few reports have discussed the presence and function of nitric oxide (NO) in structures of the facial nerve. We performed
nicotinamide adenine dinucleotide phosphate (NADPH-d)-diaphorase-histochemistry and immunohistochemistry on the intratemporal
portion of the facial nerve, including the geniculate ganglion, of guinea pigs using specific antibodies to the three known
isoforms of NO synthase and soluble guanylyl-cyclase (sGC). Normal facial nerves were compared to those treated intratympanically
with bacterial lipopolysaccharides (LPS) and tumor necrosis factor-α (TNF-α). Both constitutive NOS isoforms and sGC could
be detected in the bipolar ganglion cells of normal animals, while the inducible isoform (iNOS or NOS II) was not found. Endothelial
NOS (NOS III) and sGC were present in blood vessels and were predominantly found in the perineurial sheath and less in the
endoneurium. sGC could be detected in all fibers in a cross section of the facial nerve. LPS and TNF treatment led to the
detection of iNOS in the perikaryia of the geniculate ganglion and the perineural sheath. These findings imply that NO may
be involved in neurotransmission at least in the visceroafferent system. NO regulates vascular tone of nutrient blood vessels
in the perineural sheath and endoneurium. The presence of sGC indicates that NO acts via its second messenger cGMP. NOS II
expression may be a contributing factor to facial nerve palsy via two different mechanisms: NOS II-generated NO may lead to
an overstimulation of the visceroefferent nerve fibers and motor fibers of the facial nerve. Dysregulation in facial nerve
blood vessels could lead to edema and elevated pressure on the nerve within its osseous canal.
Received: 13 April 1999 / Accepted: 12 August 1999 相似文献