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Esparza-Gordillo Jorge; Goicoechea de Jorge Elena; Buil Alfonso; Berges Luis Carreras; Lopez-Trascasa Margarita; Sanchez-Corral Pilar; Rodriguez de Cordoba Santiago 《Human molecular genetics》2005,14(8):1107
Some MCP SNP and aHUS-associated MCP mutation 相似文献
3.
Ruben A. Mesa MD Alfonso Quintás-Cardama MD Srdan Verstovsek MD PhD 《Current hematologic malignancy reports》2007,2(1):25-33
Myelofibrosis with myeloid metaplasia (MMM) is currently classified as a classic (ie, BCR-ABL-negative) myeloproliferative
disorder characterized by anemia, multiorgan extramedullary hematopoiesis, constitutional symptoms, and premature death from
either leukemic transformation or other disease complications. Stem cell transplantation can be curative, but many patients
either are not appropriate candidates or do not choose to accept the significant risks associated with transplantation. Current
pharmacologic therapy has been beneficial mainly in terms of palliating disease-associated cytopenias, constitutional symptoms,
splenomegaly, and other organ damage from excess myeloproliferation. Novel treatment strategies are under investigation, including
targeted inhibition of JAK2V617F, the activating tyrosine kinase point mutation present in about half of patients with MMM. In this article, we review both
the old and new pharmacologic options for MMM. 相似文献
4.
Jose M. Fernández-Cebrián Peter Vorwald Kuborn Mar Pardo de Lama Alfonso Sanjuanbenito Dehesa Manuel Nevado Santos Pedro A. Pacheco Martínez Beatriz Fernández-Escudero 《Clinical & translational oncology》2005,7(3):101-109
Colorectal cancer is one of the best studied of all malignant diseases interms of genetics and/or molecular prognostic factors. These factors, and relationships with prognosis, may have important implications especially in the design of surgical and adjuvant chemo-radiotherapy options. However, the true prognostic significance of all known factors has yet to be realised. We have reviewed the literature with specific focus on the role of molecular markers involved in prognosis and the prediction of response to adjuvant treatment. 相似文献
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Alfonso Ruiz-Bravo Khalil Kouwatli Gerardo Alvarez de Cienfuegos Alberto Ramos-Cormenzana 《Immunology letters》1981,3(1):39-43
Mice pretreated with Bacillus megaterium ATCC 33085 grown on TSA medium developed a significant increase in primary antibody response to SRBC. Conversely, pretreatment with a spore suspension harvested from nutrient Agar medium decreased this antibody response. A suspension of organisms grown on a defined, phosphorus-deficient medium (P-Medium) had no effect. Otherwise, only the spore suspension was able to enhance the contact sensitivity to dinitrofluorobenzene. Peritoneal leucocyte numbers were increased by inoculation with both TSA-cultured bacteria and the spore suspension, but not by P-Medium-cultured bacteria. Administration of both the spore suspension and P-Medium-cultured bacteria decreased the in vitro phagocytosis by peritoneal adherent cells. These immunomodulator properties are discussed in relation to characteristics of the strain tested. 相似文献
7.
Roberto Rivera-Luna Marta Zapata-Tarrés Aurora Medina-Sansón Enrique López-Aguilar Ana Niembro-Zúñiga J. Amador Zarco Alfonso Marhx-Bracho Fernando Rueda-Franco Leticia Bornstein-Quevedo 《Child's nervous system》2007,23(5):543-547
Objective The purpose of this study is to analyze clinical aspects and disease-free survival (DFS) in children less than 3 years of
age diagnosed with low-grade astrocytoma.
Methods In a period of 24 years (1980–2004), a total of 43 (5.4%) children were registered with these characteristics. Twenty-three
patients had pilocytic astrocytoma, 18 diffused, and 2 mixed. Thirty-one (72.1%) children had incomplete surgical tumor resection
and 12 (27.9%) had a complete tumor resection. Twelve (27.9%) patients had cranial radiotherapy and 17 (39.5%) received chemotherapy.
Overall survival was recorded in 23 (53%). DFS was 50% at 250 months of follow-up for the whole group. DFS for the supratentorial
group was 60% at 250 months, whereas, for the infratentorial, it was 22% at 120 months (p = 0.008).
Conclusion The only favorable prognostic pattern was the supratentorial presentation. Radiotherapy and chemotherapy did not alter the
outcome. 相似文献
8.
Alfonso Fasano Antonio E Elia Arianna Guidubaldi Pietro A Tonali Anna Rita Bentivoglio 《Movement disorders》2007,22(4):564-566
We report a case of cervical dystonia occurring in a 33-year-old without personal history of movement disorder but with family history of essential tremor, primigravid, primiparous woman at 1 weeks' amenorrhea, resolved completely after delivery in the course of 3 months. Dystonia never recurred in the following 5 years. Several neurological disorders are known to occur or worsen during pregnancy. As far as we know, this is the second reported case of dystonia occurring during pregnancy, thus confirming that dystonia gravidarum represents a new entity and should be considered in women of reproductive age affected by dystonia, especially when presenting with rapid-onset cervical dystonia. 相似文献
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Paolo Mariotti Alfonso Fasano M Fiorella Contarino Giacomo Della Marca Marco Piastra Orazio Genovese Silvia Pulitanò Antonio Chiaretti Anna Rita Bentivoglio 《Movement disorders》2007,22(7):963-968
Status dystonicus (SD) is a life threatening disorder that develops in patients with both primary and secondary dystonia, characterized by acute worsening of symptoms with generalized and severe muscle contractions. To date, no information is available on the best way to treat this disorder. We review the previously described cases of SD and two new cases are reported, one of which occurring in a child with static encephalopathy, and the other one in a patient with pantothenate kinase-associated neurodegeneration. Both patients were admitted to an intensive care unit and treated with midazolam and propofol. This approach proved to be useful in the former while the progressive nature of the dystonia of the second patient required the combination of intrathecal baclofen infusion and bilateral pallidal deep brain stimulation. We believe that a rapid and aggressive approach is justified to avoid the great morbidity and mortality which characterize SD. Our experience, combined with the data available in the literature, might permit to establish the best strategies in managing this rare and severe condition. 相似文献