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121.
Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3 总被引:2,自引:1,他引:1
Sprunger LK; Escayg A; Tallaksen-Greene S; Albin RL; Meisler MH 《Human molecular genetics》1999,8(3):471-479
The mouse mutant medJ contains a splice site mutation in the neuronal
sodium channel Scn8a that results in a very low level of expression. On a
C57BL/6J genetic background, medJ homozygotes exhibit progressive paralysis
and juvenile lethality. The C3H genetic background has an ameliorating
effect, producing viable adults with a novel dystonic phenotype. The
dystonic mice exhibit movement-induced, sustained abnormal postures of the
trunk and limbs. A dominant modifier locus responsible for the difference
between strains was mapped to a 4.5 +/- 1.3 cM interval on mouse chromosome
3. Our findings establish a role for ion channels in dystonia and
demonstrate the impact of genetic background on its severity and
progression. This new model suggests that SCN8A on chromosome 12q13 and
SCNM1 on chromosome 1p21-1q21 may contribute to human inherited dystonia.
相似文献
122.
Benjamin Thoreau Florent von Tokarski Adeline Bauvois Guillaume Bayer Christelle Barbet Sylvie Cloarec Elodie Mrieau Sbastien Lachot Denis Garot Louis Bernard Emmanuel Gyan Franck Perrotin Claire Pouplard Franois Maillot Philippe Gatault Bndicte Sautenet Emmanuel Rusch Vronique Frmeaux-Bacchi Ccile Vigneau Fadi Fakhouri Jean-Michel Halimi 《Clinical journal of the American Society of Nephrology》2021,16(9):1355
123.
124.
Michele Carbone MD PhD Prasad S. Adusumilli MD H. Richard Alexander Jr MD Paul Baas MD PhD Fabrizio Bardelli PhD Angela Bononi PhD Raphael Bueno MD Emanuela Felley-Bosco PhD Francoise Galateau-Salle MD David Jablons MD Aaron S. Mansfield MD Michael Minaai BS Marc de Perrot MD Patricia Pesavento DVM PhD Valerie Rusch MD David T. Severson PhD Emanuela Taioli MD PhD Anne Tsao MD Gavitt Woodard MD Haining Yang MD PhD Marjorie G. Zauderer MD Harvey I. Pass MD 《CA: a cancer journal for clinicians》2019,69(5):402-429
Mesothelioma affects mostly older individuals who have been occupationally exposed to asbestos. The global mesothelioma incidence and mortality rates are unknown, because data are not available from developing countries that continue to use large amounts of asbestos. The incidence rate of mesothelioma has decreased in Australia, the United States, and Western Europe, where the use of asbestos was banned or strictly regulated in the 1970s and 1980s, demonstrating the value of these preventive measures. However, in these same countries, the overall number of deaths from mesothelioma has not decreased as the size of the population and the percentage of old people have increased. Moreover, hotspots of mesothelioma may occur when carcinogenic fibers that are present in the environment are disturbed as rural areas are being developed. Novel immunohistochemical and molecular markers have improved the accuracy of diagnosis; however, about 14% (high-resource countries) to 50% (developing countries) of mesothelioma diagnoses are incorrect, resulting in inadequate treatment and complicating epidemiological studies. The discovery that germline BRCA1-asssociated protein 1 (BAP1) mutations cause mesothelioma and other cancers (BAP1 cancer syndrome) elucidated some of the key pathogenic mechanisms, and treatments targeting these molecular mechanisms and/or modulating the immune response are being tested. The role of surgery in pleural mesothelioma is controversial as it is difficult to predict who will benefit from aggressive management, even when local therapies are added to existing or novel systemic treatments. Treatment outcomes are improving, however, for peritoneal mesothelioma. Multidisciplinary international collaboration will be necessary to improve prevention, early detection, and treatment. 相似文献
125.
126.
Wagner L Reis Wilson A Saad Luiz A Camargo Lucila LK Elias José Antunes-Rodrigues 《Behavioral and brain functions : BBF》2010,6(1):64
Background
Nitric oxide (NO) synthesis has been described in several circumventricular and hypothalamic structures in the central nervous system that are implicated in mediating central angiotensin-II (ANG-II) actions during water deprivation and hypovolemia. Neuroendocrine and cardiovascular responses, drinking behavior, and urinary excretions were examined following central angiotensinergic stimulation in awake freely-moving rats pretreated with intracerebroventricular injections of Nω-nitro-L-arginine methyl ester (L-NAME, 40 μg), an inhibitor of NO synthase, and L-arginine (20 ug), a precursor of NO. 相似文献127.
Ilson DH Minsky BD Ku GY Rusch V Rizk N Shah M Kelsen DP Capanu M Tang L Campbell J Bains M 《Cancer》2012,118(11):2820-2827
BACKGROUND:
Preoperative chemoradiation improves survival in esophageal and gastroesophageal junction (GEJ) cancer. We evaluated irinotecan and cisplatin as induction chemotherapy followed by concurrent chemoradiation in esophageal cancer.METHODS:
Patients with uT1N1M0 or uT2‐4NanyM0 resectable squamous cancer or adenocarcinoma of the esophagus or GEJ received irinotecan 65 mg/m2 and cisplatin 30 mg/m2 for 4 treatments in weeks 1 through 5, followed by 4 treatments in weeks 7 through 11 with 50.4 Gy in daily fractions, followed by surgery. The primary endpoint was pathologic complete response (pCR). Positron emission tomography (PET) scan was performed prior to chemotherapy and as restaging prior to radiotherapy.RESULTS:
Fifty‐five patients were evaluable, 75% of whom had adenocarcinoma and 65% of whom had uT3N1 disease. Thirty‐eight patients underwent R0 resection (69%). The incidence of pCR was 16% (95% confidence interval, 8%‐29%). Median overall survival was 31.7 months. An exploratory analysis of PET response to induction chemotherapy indicated a correlation with pCR (32% vs 4%), R0 resection (84% vs 57%), progression‐free survival (24.1 vs 7.7 months), and overall survival (40.2 vs 25.5 months).CONCLUSIONS:
Weekly treatment with irinotecan, cisplatin, and radiation achieved results no better and potentially inferior to other phase 2 chemoradiotherapy trials with a low rate of pCR. The use of PET scan after induction chemotherapy to direct chemotherapy during subsequent radiotherapy merits further study. Cancer 2011. © 2011 American Cancer Society. 相似文献128.
129.
Servais EL Colovos C Rodriguez L Bograd AJ Nitadori J Sima C Rusch VW Sadelain M Adusumilli PS 《Clinical cancer research》2012,18(9):2478-2489