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排序方式: 共有360条查询结果,搜索用时 15 毫秒
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Anne‐Marie Lamhonwah Simon E. Olpin Rodney J. Pollitt Christine Vianey‐Saban Priscille Divry Nathalie Guffon Guy T. N. Besley Russell Onizuka Linda J. De Meirleir Ljerka Cvitanovic‐Sojat Ivo Baric Carlo Dionisi‐Vici Ksenija Fumic Miljenka Maradin Ingrid Tein 《American journal of medical genetics. Part A》2002,111(3):271-284
Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile‐onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encephalopathy, which is highly responsive to L ‐carnitine therapy. Molecular analysis of the SLC22A5 (OCTN2) gene, encoding the high‐affinity carnitine transporter, was done in 11 affected individuals by direct nucleotide sequencing of polymerase chain reaction products from all 10 exons. Carnitine uptake (at Km of 5 μM) in cultured skin fibroblasts ranged from 1% to 20% of normal controls. Eleven mutations (delF23, N32S, and one 11‐bp duplication in exon 1; R169W in exon 3; a donor splice mutation [IVS3+1 G > A] in intron 3; frameshift mutations in exons 5 and 6; Y401X in exon 7; T440M, T468R and S470F in exon 8) are described. There was no correlation between residual uptake and severity of clinical presentation, suggesting that the wide phenotypic variability is likely related to exogenous stressors exacerbating carnitine deficiency. Most importantly, strict compliance with carnitine from birth appears to prevent the phenotype. © 2002 Wiley‐Liss, Inc. 相似文献
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Tekin S Hansen PJ 《American journal of reproductive immunology (New York, N.Y. : 1989)》2004,51(1):56-62
Many species exhibiting hemochorial placentation experience an accumulation of macrophages in the endometrium during pregnancy. For the present study, it was tested whether macrophages also accumulate in the endometrium of the sheep, which is a species undergoing an epitheliochorial placentation. An additional objective was to determine whether regulation of endometrial macrophage number occurs via systemic or local signals and whether progesterone is one of these signals. The approach was to evaluate presence of macrophages immunohistochemically using antibodies to CD68 and CD14. Tissues examined were from cyclic ewes in the luteal phase of the estrous cycle, unilaterally-pregnant ewes at day 140 of pregnancy in which pregnancy was surgically confined to one uterine horn, ovariectomized ewes, and ovariectomized ewes treated with progesterone for 44 days. Macrophages were localized predominately to the stromal compartment of the stratum compactum region of the endometrium. In non-pregnant ewes, macrophages were not abundant regardless of physiological status. Increased numbers of endometrial macrophages were seen for both the pregnant and non-pregnant uterine horns of unilaterally pregnant ewes. Numbers of macrophages were higher in the endometrium from the pregnant uterine horn than from endometrium from the non-pregnant uterine horn. Results indicate that macrophages accumulate in the endometrium by day 140 of pregnancy in the sheep and that this induction is because of both systemic and local signals. Progesterone appears not to be an important regulator of numbers of endometrial macrophages. 相似文献
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BACKGROUND: The role of internal thoracic artery (ITA) nervous supply has not been previously considered as a potential factor influencing excellent long-term patency of an ITA graft. To define the interaction between the primary afferent neurons and endothelial cells of ITA, we investigated the effects of acute capsaicin administration in vitro on the isometric tension of human ITAs. METHODS: Vessels were obtained from patients undergoing coronary bypass or from multi-organ transplant donors. Thirty-three ITA segments (5 mm wide) were suspended as rings between two stainless-steel stir-ups in water-jacketed (37 degrees C) tissue baths. The tissue baths contained 10 ml physiological salt solution (PSS) of the following composition (mM/L): NaCl 119, KCl 4.7, NaH2PO4 1.0, MgCl2 0.5, CaCl2 2.5, NaHCO3 25, and glucose 11, aerated continuously with 95% O2 and 5% CO2. Peptidase inhibitors, phosphoramidon (1 microM) and captopril (1 microM), were added to PSS to decrease peptide degradation. Mechanical responses were measured isometrically and recorded on a polygraph via isometric force transducers. Vessels were preconstricted with submaximal concentrations of norepinephrine. After the tension had stabilized, capsaicin was added cumulatively to the tissue bath. The viability of ITA was verified by its responses to endothelial-dependent (acetylcholine, 1 microM) (n=20) and endothelial-independent (sodium nitroprusside, 10 microM) (n=13) vasodilators. RESULTS: The exposure of capsaicin (3 microM) to human ITA produced varied effects on ITA irrespective of its endothelium. Capsaicin induced contraction of the ITA smooth muscle in 13 endothelium-intact ITA segments while it produced vasoconstriction in 9 endothelium-denuded ITAs (p=0.6437). In response to capsaicin, relaxation of ITA smooth muscle was observed in 7 ITA rings with endothelium, while vasodilation was present in 4 ITA segments without endothelium (p=0.4099). CONCLUSIONS: Capsaicin-sensitive neurons encircling human ITA produce a neurogenic vasoreactive response independent of ITA endothelial cell integrity. 相似文献
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PURPOSE: To quantitate the effects of a selective cyclooxygenase (COX)-2 inhibitor, NS-398, on porcine and human ureteral contractility in vitro. MATERIALS AND METHODS: This study was performed in 3 distinct groups. In group 1, segments of ureter were obtained from freshly sacrificed domestic swine. Sections were isolated and suspended longitudinally. Twenty-four ureteral segments were treated with either indomethacin (a nonselective COX inhibitor), NS-398 (selective COX-2 inhibitor), or DMSO (control). Spontaneous contractions were then recorded in each group. In group 2, fifteen segments of human ureter were obtained from patients undergoing donor nephrectomy or ureteral reimplantation. Segments were isolated and suspended as above, and treated with either indomethacin, NS-398, or DMSO. In group 3, eighteen sections of human ureter obtained from donor nephrectomy patients were passively sensitized for 20 hours in ragweed allergic donor serum. Ureteral segments were then treated with either indomethacin, NS-398 or DMSO, and then the segments were subsequently exposed to ragweed antigen and contractions were subsequently recorded. RESULTS: In group 1, the average time to 100% inhibition of spontaneous contraction was 48.8 minutes (S.E.M. = 7.9) for indomethacin, 65.7 minutes (S.E.M. 6.7) for NS-398, and beyond 150 minutes for DMSO. The percent reduction was 100% for indomethacin (S.E.M. = 0), 92.5% for NS-398 (S.E.M. 4.9%), and 52.9% for DMSO (s.e.m. = 10.8%). In group 2, the average time to 100% inhibition was 29 minutes (S.E.M. = 10.4) for indomethacin, 21 minutes (S.E.M. 4.8) for NS-398, and beyond 150 minutes for DMSO. The percent reduction was 100% for indomethacin (S.E.M. = 0), 100% (S.E.M. = 0) for NS-398, and 20% (S.E.M. = 12%) for DMSO. In group 3, ragweed sensitized ureters treated with DMSO (control group) contracted an average maximum of 10 times per 5 minutes. Antigen failed to induce contractions of sensitized tissues treated with indomethacin or NS-398. CONCLUSION: A selective COX-2 inhibitor (NS-398) reduces ureteral contractility as effectively as indomethacin (a nonselective COX inhibitor) in both porcine and human ureteral segments in vitro (p <0.05). Selective COX-2 inhibitors may have significant clinical potential in treating renal colic as they cause less gastric ulceration. 相似文献
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Titap Yazicioglu Rahsan Inan Anl Agakesen Murat Oklar Saban imek 《Indian journal of ophthalmology》2022,70(6):2094
Purpose:Functional epiphora is a clinical condition that presents with the complaint of watery eyes, but without anatomical stenosis in the lacrimal drainage system. Although the mechanism is not clear, there are various possibilities involving the movement of the orbicularis oculi muscle, especially its deeper segment (Horner’s muscle). We aimed to evaluate the function of the orbicularis oculi muscle in patients with patent, but dysfunctional lacrimal drainage system using a quantitative motor unit potential (MUP) analysis.Methods:Twenty-eight patients with functional epiphora (mean age = 59 years) and a control group of 28 volunteers were included in the study. Inclusion criteria were persistent and symptomatic epiphora or wiping >10 times per day and diagnosis confirmation by lacrimal irrigation test. Electromyography (EMG) was performed on the deeper segment of the orbicularis oculi muscle (medial and lateral parts). MUP parameters (duration time, amplitude, number of phases, number of turns, area, rise time, and thickness) were evaluated in both groups. Any increase in amplitude, prolongation time (>14 ms), number of turns, and satellite potential was taken as characteristic of the neurogenic type of epiphora, whereas shortened motor unit duration time, increased phase number, and low amplitude are the features of myopathic type.Results:Upon MUP analysis of the medial and lateral orbicularis oculi muscle, the increase in duration and thickness values in the medial part and the increase in duration, amplitude, area, and thickness values of the lateral part were found to be statistically significant in the patient group compared to the control group (P < 0.001). In the evaluation of the patients’ medial and lateral orbicularis oculi muscle, the increase in phase values and decrease in amplitude, area, and rise time values were found to be statistically significant (P = 0.024, P < 0.001, P < 0.001, and P = 0.010, respectively).Conclusion:These data show that functional epiphora is due to neurogenic damage of the orbicularis oculi muscle and should be investigated in more detail. 相似文献
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Yazar S Yaman O Demirtaş F Yalçin S Yücesoy M Sahin I 《Acta gastro-enterologica Belgica》2002,65(4):241-244
A 52 year-old male patient with idiopathic hepatic cirrhosis complaining of diarrhea and weakness was accepted to the gastroenterology clinic. In order to find out the causative etiologic agent of diarrhea, stool samples were examined by different methods and stained using modified Kinyoun's acid-fast stain. Following examination, approximately 9 microns diameter, acid-fast variable wrinkled spheres were seen and diagnosed as Cyclospora cayetanensis. Confirmation of the diagnosis was established by fluorescent microscope (380 to 420 nm excitation filter), which showed bright green to intense blue autofluorescent oocysts. It has been shown that, Cyclospora cayetanensis is a coccidian parasite mainly found in immunocompromised patients and that it may be the agent of prolonged diarrhea. Only three cyclosporiosis cases have been previously reported in our country; all three cases were AIDS patients. We report here a further case of Cyclospora cayetanensis infection in a patient with hepatic cirrhosis and we consider that this is the first case, which was reported in hepatic cirrhosis. 相似文献
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Yasar Kucukardali Oral Oncul Saban Cavuslu Mehmet Danaci Semra Calangu Hakan Erdem Ayse Willke Topcu Zuhal Adibelli Murat Akova Emel Azak Karaali Ahmet Melih Ozel Zahit Bolaman Bulent Caka Birsen Cetin Erkan Coban Oguz Karabay Cagla Karakoc Mehmet Akif Karan Selda Korkmaz Gulsen Ozkaya Sahin Alaaddin Pahsa Fatma Sirmatel Emrullah Solmazgul Namik Ozmen Ilyas Tokatli Cengiz Uzun Gulsen Yakupoglu Bulent Ahmet Besirbellioglu Hanefi Cem Gul 《International journal of infectious diseases》2008,12(1):71-79
OBJECTIVE: The purpose of this trial was to determine the spectrum of diseases with fever of unknown origin (FUO) in Turkey. METHODS: A prospective multicenter study of 154 patients with FUO in twelve Turkish tertiary-care hospitals was conducted. RESULTS: The mean age of the patients was 42+/-17 years (range 17-75). Fifty-three (34.4%) had infectious diseases (ID), 47 (30.5%) had non-infectious inflammatory diseases (NIID), 22 (14.3%) had malignant diseases (MD), and eight (5.2%) had miscellaneous diseases (Mi). In 24 (15.6%) of the cases, the reason for high fever could not be determined despite intensive efforts. The most common ID etiologies were tuberculosis (13.6%) and cytomegalovirus (CMV) infection (3.2%). Adult Still's disease was the most common NIID (13.6%) and hematological malignancy was the most common MD (7.8%). In patients with NIID, the mean duration of reaching a definite diagnosis (37+/-23 days) was significantly longer compared to the patients with ID (25+/-12 days) (p=0.007). In patients with MD, the mean duration of fever (51+/-35 days) was longer compared to patients with ID (37+/-38 days) (p=0.052). CONCLUSIONS: Although infection remains the most common cause of FUO, with the highest percentage for tuberculosis, non-infectious etiologies seem to have increased when compared with previous studies. 相似文献