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51.
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53.
Alagozlu H Unal S Karakan T Cindoruk M Ergun M 《Journal of clinical gastroenterology》2008,42(2):191-193
AIM/BACKGROUND: Achalasia may be associated with extraesophageal dysmotility. However, this relation is still poorly understood. In the present study, we used noninvasive real-time ultrasonography to examine the motility function of the gallbladder in the patients with achalasia. MATERIALS AND METHODS: Thirty-three achalasic patients and 33 healthy volunteers were included in the study. All subjects were investigated after 12 hours of fasting and 30 minutes after a standard test meal. Premeal and postmeal gallbladder volumes were used for calculation of the ejection fraction of the gallbladder and fasting gallbladder volume. RESULTS: The mean fasting volume (18.52+/-1.45 vs. 24.63+/-1.84 cm; P<0.05) and ejection fractions of gallbladder (35.84+/-4.12 vs. 54.47+/-2.47; P<0.05) in the patients with achalasia were lower than the control group. CONCLUSIONS: Such a finding may confirm the possible extraesophageal extension of primary achalasia. Achalasic patients have smaller gallbladders than do others. It could be speculated that it is congenital and/or achalasic patients' gallbladder has incomplete relaxation (as in the lower esophageal sphincter of the achalasia). 相似文献
54.
Ipek Yeldan Burcu Ersoz Husey?ns?noglu Buket Ak?nc? Ela Tarakc? Sevim Baybas Arzu Razak Ozd?ncler 《Journal of Physical Therapy Science》2015,27(11):3519-3524
[Purpose] The aim of the study was to evaluate the effects of a very early mirror therapy
program on functional improvement of the upper extremity in acute stroke patients.
[Subjects] Eight stroke patients who were treated in an acute neurology unit were included
in the study. [Methods] The patients were assigned alternatively to either the mirror
therapy group receiving mirror therapy and neurodevelopmental treatment or the
neurodevelopmental treatment only group. The primary outcome measures were the upper
extremity motor subscale of the Fugl-Meyer Assessment, Motricity Index upper extremity
score, and the Stroke Upper Limb Capacity Scale. Somatosensory assessment with the Ayres
Southern California Sensory Integration Test, and the Barthel Index were used as secondary
outcome measures. [Results] No statistically significant improvements were found for any
measures in either group after the treatment. In terms of minimally clinically important
differences, there were improvements in Fugl-Meyer Assessment and Barthel Index in both
mirror therapy and neurodevelopmental treatment groups. [Conclusion] The results of this
pilot study revealed that very early mirror therapy has no additional effect on functional
improvement of upper extremity function in acute stroke patients. Multicenter trials are
needed to determine the results of early application of mirror therapy in stroke
rehabilitation.Key words: Acute stroke, Mirror therapy, Upper extremity 相似文献
55.
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Hilal Unal Gulsuner Suleyman Gulsuner Fatma Nazli Mercan Onur Emre Onat Tom Walsh Hashem Shahin Ming K. Lee Okan Dogu Tulay Kansu Haluk Topaloglu Bulent Elibol Cenk Akbostanci Mary-Claire King Tayfun Ozcelik Ayse B. Tekinay 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(51):18285-18290
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease, we carried out whole exome sequencing and pedigree analysis, identifying HTRA2 p.G399S as the allele likely responsible for both conditions. Essential tremor was present in persons either heterozygous or homozygous for this allele. Homozygosity was associated with earlier age at onset of tremor (P < 0.0001), more severe postural tremor (P < 0.0001), and more severe kinetic tremor (P = 0.0019). Homozygotes, but not heterozygotes, developed Parkinson signs in the middle age. Among population controls from the same Anatolian region as the family, frequency of HTRA2 p.G399S was 0.0027, slightly lower than other populations. HTRA2 encodes a mitochondrial serine protease. Loss of function of HtrA2 was previously shown to lead to parkinsonian features in motor neuron degeneration (mnd2) mice. HTRA2 p.G399S was previously shown to lead to mitochondrial dysfunction, altered mitochondrial morphology, and decreased protease activity, but epidemiologic studies of an association between HTRA2 and Parkinson disease yielded conflicting results. Our results suggest that in some families, HTRA2 p.G399S is responsible for hereditary essential tremor and that homozygotes for this allele develop Parkinson disease. This hypothesis has implications for understanding the pathogenesis of essential tremor and its relationship to Parkinson disease.Essential tremor is one of the most frequent movement disorders in humans (1). It is characterized primarily by postural or kinetic tremor of the arms and hands, but head, legs, voice, and other regions of the body may also be affected (2). The worldwide prevalence is 0.9%, increasing to more than 4% in elderly populations (1). Familial essential tremor is genetically heterogeneous. Genetic linkage studies of multiply affected families revealed three genomic regions segregating with the condition, on chromosomes 3q13 [ETM1; Online Mendelian Inheritance in Man (OMIM) 190300], 2p22-24 (ETM2; OMIM 602134), and 6p23 (ETM3; OMIM 611456) (3–5). No clearly causal mutations have been identified in these regions, although the common variant DRD3 p.S9G in the ETM1 region has been proposed as a risk factor and HS1BP3 p.A265G in the ETM2 region appeared in two multiply affected families (6, 7). Genomewide association studies of essential tremor reported associations with common variants in an intron of LINGO1 and in an intron of SLC1A2 (8–10). Recently, DNAJC13 p.N855S, which had been identified in Parkinson disease patients, was also found in two unrelated patients with essential tremor (11). Nonsense mutation p.Q290X in the RNA-binding protein FUS was identified by whole exome sequencing in a large family with essential tremor (ETM4; OMIM 614782) (12). Screening other subjects with essential tremor for FUS revealed two rare missense variants, suggesting that mutations in FUS explain a subset of cases with the condition (13, 14).In this study, we examined a six-generation family segregating essential tremor, and in multiple relatives, essential tremor as a feature of Parkinson disease. We carried out whole exome sequencing of genomic DNA from three severely affected family members and subsequent pedigree analysis to identify the genetic basis of essential tremor and Parkinson disease in the family. 相似文献
56.
Cortical inputs innervate calbindin‐immunoreactive interneurons of the rat basolateral amygdaloid complex 下载免费PDF全文
Gunes Unal Jean‐Francois Paré Yoland Smith Denis Paré 《The Journal of comparative neurology》2014,522(8):1915-1928
The present study was undertaken to shed light on the synaptic organization of the rat basolateral amygdala (BLA). The BLA contains multiple types of GABAergic interneurons that are differentially connected with extrinsic afferents and other BLA cells. Previously, it was reported that parvalbumin immunoreactive (PV+) interneurons receive strong excitatory inputs from principal BLA cells but very few cortical inputs, implying a prevalent role in feedback inhibition. However, because prior physiological studies indicate that cortical afferents do trigger feedforward inhibition in principal cells, the present study aimed to determine whether a numerically important subtype of interneurons, expressing calbindin (CB+), receives cortical inputs. Rats received injections of the anterograde tracer Phaseolus vulgaris‐leucoagglutinin (PHAL) in the perirhinal cortex or adjacent temporal neocortex. Light and electron microscopic observations of the relations between cortical inputs and BLA neurons were performed in the lateral (LA) and basolateral (BL) nuclei. Irrespective of the injection site (perirhinal or temporal neocortex) and target nucleus (LA or BL), ~90% of cortical axon terminals formed asymmetric synapses with dendritic spines of principal BLA neurons, while 10% contacted the dendritic shafts of presumed interneurons, half of which were CB+. Given the previously reported pattern of CB coexpression among GABAergic interneurons of the BLA, these results suggest that a subset of PV‐immunonegative cells that express CB, most likely the somatostatin‐positive interneurons, are important mediators of cortically evoked feedforward inhibition in the BLA. J. Comp. Neurol. 522:1915–1928, 2014. © 2013 Wiley Periodicals, Inc. 相似文献
57.
Sivgin S Baldane S Kaynar L Kurnaz F Pala C Ozturk A Cetin M Unal A Eser B 《Neoplasma》2012,59(2):183-190
Iron overload increases the risk of infections, veno-occlusive disease and hepatic dysfunction in post-transplant period. Our objective was to investigate the association of pre-transplant ferritin levels with complications and survival after allogeneic hematopoietic stem cell transplantation (alloHSCT).We retrospectively analysed 84 patients' data who had undergone allogeneic HSCT into two groups: patients with a serum ferritin level ≥ 1000 ng/ml, and patients with <1000 ng/ml at the time of HSCT.Cox-regression analysis showed that pre-transplant serum ferritin levels were significantly higher in patients who had at least one infectious event compared with those who had no any infectious event in the post-transplant 100 days (p<0.023). Overall survival (OS) and disease-free survival (DFS) rates were significantly higher in patients with a time-to-tx interval 12 months (p=0.002 and p=0.008 respectively). A higher risk of death was observed in high-ferritin group (hazard ratio=2.27, CI:1.01-5.09, p=0.023 for OS and hazard ratio=2.49, CI:1.12-5.53 p=0.039 for DFS). No significant effect on OS and DFS among groups was observed for variables conditioning regimen, gender and diagnosis. Acute GVHD was more common in patients with a ferritin level ≥ 1000 ng /mL, but this was not statistically significant (p>0.05). There was no statistical significance in both groups (ferritin ≥ 1000 ng /mL and ferritin <1000 ng/mL) for relapse rates (p>0.05). Platelet and neutrophil engaftment day was not found statistically significant compared with both groups (p=0.273 and p=0.882, respectively). Pre-transplant ferritin levels may predict poor outcomes in patients who had undergone allogeneic hematopoietic stem cell transplantation. 相似文献
58.
59.
Uçan H Alemdaroğlu E Yoldaş TK Erdem Özdamar S Akyüz M Hatipoğlu C 《Rheumatology international》2012,32(2):525-528
Diabetic muscular infarct (DMI) is a rare condition, which begins with acute onset of extremity pain and swelling. Patients
usually have long-standing disease and poorly controlled diabetes mellitus (DM). Thigh muscle group is the most commonly involved
side, while lower leg involvement is rare. We represent herein a 22-year-old patient with type I DM who admitted to our outpatient
clinic due to painful swelling of the left leg. In physical examination, anterior left leg was painful and firm on palpation;
there was diffuse swelling extending to the knee and ankle with mild local fever and redness. T2-weighted MRI demonstrated
hyperintensity in left leg muscles. A biopsy confirmed the diagnosis of DMI. She was treated with glucose regulation, analgesics,
antiplatelet treatment and rest. At her 6 months, recurrence of DMI was observed. DMI should be considered in diabetic patients
with extremity pain and swelling. Treatment plan should include the regulation of the blood glucose and evaluation of end-organ
complications, analgesia, and bed rest. 相似文献
60.
Mustafa Cesur Mehtap Akcil Sibel Ertek Rifat Emral Safak Bulut Sevim Gullu Demet Corapcioglu 《Archives of Medical Science》2013,9(6):1083-1089