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1.
Osnat Bairey MD Alisa Taliansky MD Amir Glik MD Alexandra Amiel MD Shlomit Yust-Katz MD Ronit Gurion MD Miri Zektser MD Tzvika Porges MD Nadav Sarid MD Netanel A. Horowitz MD Tzahala Tzuk Shina MD Eyal Lebel MD Amos Cohen MD Karyn Revital Geiger MD Pia Raanani MD Ofir Wolach MD Tali Siegal MD 《Cancer》2023,129(24):3905-3914
2.
Cory N Criss Christa Grant Matthew W Ralls James D Geiger 《Asian journal of endoscopic surgery》2019,12(1):128-131
This case demonstrates successful resection of a rare, recurrent presacral‐pelvic lipoblastoma in a 19‐year‐old female patient. Because of the anatomical location of the mass and its proximity to vital structures, the robotic approach allowed for both optimal visualization and effective debulking of the mass. Furthermore, with the use of an articulating laparoscopic camera, key visualization of the posterior lateral pelvis was possible. Using a wide breadth of technologies and resources is essential to broadening the surgical armamentarium and achieving resectability in otherwise challenging cases. 相似文献
3.
Bong Jik Kim Dong‐Kyu Kim Jin Hee Han Jayoung Oh Ah Reum Kim Chung Lee Nayoung KD Kim Hye‐Rim Park Min Young Kim Sejoon Lee Seungmin Lee Doo Yi Oh Woong‐Yang Park Sungjin Park Byung Yoon Choi 《Human mutation》2019,40(5):525-531
Otoancorin (OTOA), encoded by OTOA, is required for the development of the tectorial membrane in the inner ear. Mutations in this gene cause nonsyndromic hearing loss (DFNB22). The molecular mechanisms underlying most DFNB22 remain poorly understood. Disruption of glycosylphosphatidylinositol (GPI) anchorage has been assumed to be the pathophysiology mandating experimental validation. From a Korean deaf family, we identified two trans OTOA variants (c.1320 + 5 G>C and p.Gln589ArgfsX55 [NM_144672.3]) . The pathogenic potential of c.1320 + 5 G>C was confirmed by a minigene splicing assay. To experimentally determine the GPI anchorage, wild‐type (WT) and mutant OTOA harboring p.Gln589ArgfsX55 were expressed in HEK293T cells. The mutant OTOA with p.Gln589ArgfsX55 resulted in an uncontrolled release of OTOA into the medium in contrast with phosphatidylinositol‐specific phospholipase C‐induced controlled release of WT OTOA from the cell surface. Together, the results of this reverse translational study confirmed GPI‐anchorage of OTOA and showed that downstream sequences from the 589th amino acid are critical for GPI‐anchorage. 相似文献
4.
Nastassja Himmelreich Bianca Dimitrov Virginia Geiger Matthias Zielonka Anna‐Marlen Hutter Lars Beedgen Andreas Hüllen Maximilian Breuer Verena Peters Kai‐Christian Thiemann Georg F. Hoffmann Irmgard Sinning Thierry Dupr Sandrine Vuillaumier‐Barrot Catherine Barrey Jonas Denecke Wolfgang Klfen Gesche Düker Rainer Ganschow Michael J. Lentze Stuart Moore Nathalie Seta Andreas Ziegler Christian Thiel 《Human mutation》2019,40(7):938-951
ALG3‐CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER‐mannosyltransferase ALG3. Here, we summarize the clinical, biochemical, and genetic data of four new ALG3‐CDG patients, who were identified by a type I pattern of serum transferrin and the accumulation of Man5GlcNAc2‐PP‐dolichol in LLO analysis. Additional clinical symptoms observed in our patients comprise sensorineural hearing loss, right‐descending aorta, obstructive cardiomyopathy, macroglossia, and muscular hypertonia. We add four new biochemically confirmed variants to the list of ALG3‐CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G. Furthermore, in Patient 1 an additional open‐reading frame of 141 bp (AAGRP) in the coding region of ALG3 was identified. Additionally, we show that control cells synthesize, to a minor degree, a hybrid protein composed of the polypeptide AAGRP and ALG3 (AAGRP‐ALG3), while in Patient 1 expression of this hybrid protein is significantly increased due to the homozygous variant c.160_196del (g.165C>T). By reviewing the literature and combining our findings with previously published data, we further expand the knowledge of this rare glycosylation defect. 相似文献
5.
Collagen degradation in different stages of gingival inflammation was examined. Higher collagenolytic activity and nonspecific protease activity were found in the severely inflamed gingiva, as compared to mildly inflamed or healthy gingiva. This was shown by electrophoretic studies and measurement of peptide-bound hydroxyproline in the culture. 相似文献
6.
Anniek KD Visser Nisha K Ramakrishnan Antoon TM Willemsen Valentina Di Gialleonardo Erik FJ de Vries Ido P Kema Rudi AJO Dierckx Aren van Waarde 《Journal of cerebral blood flow and metabolism》2014,34(1):118-125
The PET tracer [11C]5-hydroxytryptophan ([11C]5-HTP), which is converted to [11C]5-hydroxytryptamine ([11C]5-HT) by aromatic amino acid decarboxylase (AADC), is thought to measure 5-HT synthesis rates. But can we measure these synthesis rates by kinetic modeling of [11C]5-HTP in rat? Male rats were scanned with [11C]5-HTP (60 minutes) after different treatments. Scans included arterial blood sampling and metabolite analysis. 5-HT synthesis rates were calculated by a two-tissue compartment model (2TCM) with irreversible tracer trapping or Patlak analysis. Carbidopa (inhibitor peripheral AADC) dose-dependently increased [11C]5-HTP brain uptake, but did not influence 2TCM parameters. Therefore, 10 mg/kg carbidopa was applied in all subsequent study groups. These groups included treatment with NSD 1015 (general AADC inhibitor) or p-chlorophenylalanine (PCPA, inhibitor of tryptophan hydroxylase, TPH). In addition, the effect of a low-tryptophan (Trp) diet was investigated. NSD 1015 or Trp depletion did not affect any model parameters, but PCPA reduced [11C]5-HTP uptake, and the k3. This was unexpected as NSD 1015 directly inhibits the enzyme converting [11C]5-HTP to [11C]5-HT, suggesting that trapping of radioactivity does not distinguish between parent tracer and its metabolites. As different results have been acquired in monkeys and humans, [11C]5-HTP-PET may be suitable for measuring 5-HT synthesis in primates, but not in rodents. 相似文献
7.
8.
BACKGROUND: The potential use of solvent/detergent-treated plasma (S/D plasma) in transfusion practice raises concerns about the cytolytic effects that any residual solvent and detergent in the virally inactivated blood component might have on units of red cells in vitro, if the two components are mixed during preparation. STUDY DESIGN AND METHODS: S/D plasma was mixed with variously processed units of stored red cells, in vitro, to evaluate the effect the residual solvent and detergent would have on cell membrane integrity. A paired protocol design was used in which half-units of red cells were exposed to S/D plasma (test), and the matched half-units were exposed to either the supernatant additive solution from the original red cell unit or standard fresh-frozen plasma (FFP) (control). After incubation for up to 5 days, the units were evaluated for evidence of hemolysis or changes in other red cell storage assays. RESULTS: This study showed that, for fresh additive solution red cells (AS-1), the 5-day storage plasma hemoglobin levels were comparable in the red cells exposed to S/D plasma (21 mg/dL) and in the paired half-units stored in the original AS-1 supernatant (31 mg/dL) (p > 0.05). Similar findings were recorded for stored AS-1 red cells (S/D plasma; 111 mg/dL vs. AS-1 supernatant, 147 mg/dL; p > 0.05); stored CPDA-1 red cells (S/D plasma, 133 mg/dL vs. FFP, 103 mg/dL; p > 0.05); frozen red cells (S/D plasma, 28 mg/dL vs. FFP, 18 mg/dL; p > 0.017); and stored irradiated AS-1 red cells (S/D plasma, 608 mg/dL vs. AS-1 supernatant, 726 mg/dL; p > 0.05). Comparable results were found for other assays, including levels of plasma potassium, osmotic fragility, and red cell antigen titer. CONCLUSION: These data show that S/D plasma does not induce red cell lysis even after 5 days of in vitro storage. These results are consistent with previous findings by this laboratory that platelets are not harmed by storage in S/D plasma. Red cells resuspended in S/D plasma and stored for up to 5 days maintain in vitro storage characteristics that are acceptable for the use of the cells in clinical transfusion practice. 相似文献
9.
Alexander T. Hawkins Kenneth W. Sharp Molly M. Ford Roberta L. Muldoon M. Benjamin Hopkins Timothy M. Geiger 《American journal of surgery》2018,215(4):712-718
Background
Perforation during colonoscopy is a rare but well recognized complication with significant morbidity and mortality. We aim to systematically review the currently available literature concerning care and outcomes of colonic perforation. An algorithm is created to guide the practitioner in management of this challenging clinical scenario.Data sources
A systematic review of the literature based on PRISMA-P guidelines was performed. We evaluate 31 articles focusing on findings over the past 10 years.Conclusion
Colonoscopic perforation is a rare event and published management techniques are marked by their heterogeneity. Reliable conclusions are limited by the nature of the data available – mainly single institution, retrospective studies. Consensus conclusions include a higher rate of perforation from therapeutic colonoscopy when compared to diagnostic colonoscopy and the sigmoid as the most common site of perforation. Mortality appears driven by pre-existing conditions. Treatment must be tailored according to the patient's comorbidities and clinical status as well as the specific conditions during the colonoscopy that led to the perforation. 相似文献10.
Desirée Schubert Marie-Christine Klein Sarah Hassdenteufel Andrés Caballero-Oteyza Linlin Yang Michele Proietti Alla Bulashevska Janine Kemming Johannes Kühn Sandra Winzer Stephan Rusch Manfred Fliegauf Alejandro A. Schäffer Stefan Pfeffer Roger Geiger Adolfo Cavalié Hongzhi Cao Fang Yang Bodo Grimbacher 《The Journal of allergy and clinical immunology》2018,141(4):1427-1438