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81.
Giuseppe D'AMICO 《Nephrology (Carlton, Vic.)》1997,3(1):13-17
Summary: IgAN is the commonest primary glomerulonephritis in all parts of the world; the different incidence reported in different geographical areas is mainly due to different biopsy policies, even though genetic factors, still unclarified, may be acting. Progression to ESRF occurs in IgAN at a variable rate (average renal survival at 10 years is 80–87%), and many studies, reviewed in this paper, have sought to identify clinical and histological features which are predictive of the outcome. A functional impairment at presentation and a severe proteinuria are the most powerful clinical indicators of unfavourable prognosis, while both glomerular and interstitial sclerosis are the most reliable histological indicators. The fact that these prognostic indicators are not always reliable in predicting the outcome for a single patient, probably due to the pathophysiology of the progressive damage in this disease, is stressed. 相似文献
82.
83.
Onelio Geatti Brahm Shapiro Pier Giuseppe Orsolon Gianni Proto Ugo Paolo Guerra Francesco Antonucci Daniele Gasparini 《European journal of nuclear medicine and molecular imaging》1994,21(1):17-22
Technetium-99m methoxyisobutylisonitrile (MIBI), like thallium-201, has recently been introduced as a myocardial perfusion agent and is now also showing very promising results in parathyroid scintigrapy. The results of 201Tl/99mTc-pertechnetate and 99mTc-MIBI/99mTc-pertechnetate subtraction scintigraphy, ultrasonography and computed tomography are presented in a series of 43 patients operated on for hyperparathyroidism. All four imaging modalities were confirmed to be reliable, scintigraphy being the most accurate. Sensitivities ranged from 81% to 95%, that of 99mTc-MIBI being the highest. Moreover this tracer, which has more favourable physical and also biochemical properties, yielded images of superior quality. This allowed localization of the lesion by visual inspection only in as many as 86% of the patients with positive 99mTc-MIBI/99mTc-pertechnetate subtraction scintigraphy. We believe that the higher sensitivity, superior image quality and lower cost of 99mTc-MIBI imaging will make 99mTc-MIBI the new radiopharmaceutical of choice for parathyroid scintigraphy (when one takes into account the stability of labelling with large activities it is possible to perform three or four cardiac studies together with one parathyroid scintigraphic examination using one lyophililzed vial). 相似文献
84.
Giuseppe Giuffre’ Vincenzo Schifano Maria Vadala’ 《Documenta ophthalmologica. Advances in ophthalmology》1995,91(3):255-263
We report on a case of idiopathic uveal effusion syndrome complicated by AION. To our knowledge such an association hasn't been previously described. We suggest that scleral thickening caused obstruction of vortex veins followed by uveal effusion and compression of posterior ciliary arteries within their intrascleral tract, leading to AION. Nevertheless it can't be excluded that AION was the result of mechanical compression on ciliary vessels of optic disc by choroidal detachment. 相似文献
85.
Francesco Franceschi Umile Giuseppe Longo Laura Ruzzini Paolo Simoni Bruno Beomonte Zobel Vincenzo Denaro 《Knee surgery, sports traumatology, arthroscopy》2007,15(3):266-268
Bilateral discoid medial menisci is an extremely rare condition of the knee and it can be associated to other pathological
findings, including anterior portion cyst formation. We report on the clinical features, radiographic findings, treatment
and results of one patient who presented a bilateral medial discoid meniscus combined with posterior portion cyst of the left
knee. To the best of the author’s knowledge, this is the first case of bilateral medial discoid meniscus associated with posterior
portion cyst formation. 相似文献
86.
Roberto Perniola Giuseppe Tamborrino Santo Marsigliante Corrado De Rinaldis 《Journal of oral pathology & medicine》1998,27(6):278-282
The features of enamel hypoplasia in a small group of patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) are described. Using a recently developed method, the authors evaluated quantitatively the amount of defect in each tooth by measuring the width of the hypoplastic lesions and dividing the value by the crown height. They then assessed the degree of damage in each tooth type (from central incisors to second premolars) and patient. Canines were the most severely affected among maxillary and mandibular teeth, but all tooth types were involved. Analysing both the differences between patients and their age at the beginning of the defect, the authors observe that hypoparathyroidism is not responsible for the onset of enamel hypoplasia in APECED, although it may contribute to the damage. 相似文献
87.
β-N-Acetylhexosaminadases in human cerebrospinal fluid and serum of patients with multiple sclerosis
Alessandro Datti Carla Emiliani Giuseppe Capocchi Aldo Orlacchio 《Clinica chimica acta; international journal of clinical chemistry》1991,200(2-3)
β-N-Acetylhexosaminidase activity and isoenzyme have been investigated in normal human cerebrospinal fluid and that of patients with multiple sclerosis. β-N-acetylhexosaminidase activity in normal cerebrospinal fluids has been resolved into five components. The major component was in a form that eluted from DEAE cellulose at the same salt concentration as hexosaminidase As, the isoenzyme previously identified in human serum. Cerebrospinal fluid from patients exhibited a different isoenzyme profile, showing a remarkable increase in a form having a pI which was more acidic than that of As. These changes have a potential use in the diagnosis and further biochemical characterization of multiple sclerosis. 相似文献
88.
Haemophilia A: molecular insights. 总被引:1,自引:0,他引:1
Giuseppe Castaldo Valeria D'Argenio Paola Nardiello Federica Zarrilli Veronica Sanna Angiola Rocino Antonio Coppola Giovanni Di Minno Francesco Salvatore 《Clinical chemistry and laboratory medicine》2007,45(4):450-461
Haemophilia A is the most common inherited bleeding disorder caused by defects in the F8C gene that encodes coagulation factor VIII. This X-linked recessive disorder occurs in approximately 1:5000 males. Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and reduced factor VIII activity in plasma. Carrier females are usually asymptomatic and can be identified only by molecular analysis. The most frequent mutations in F8C are intron 22 and 1 inversions, which occur in approximately 50% and 5% of patients, respectively, with a severe phenotype. Large gene deletions are observed in approximately 5% of alleles from patients with severe haemophilia A. The remaining severe cases and all moderate and mild cases result from numerous point mutations and small insertions/deletions, which are de novo mutations in one-third of cases. Thus, molecular diagnosis of carrier status and prenatal diagnosis in families without intron 22 or 1 inversions is based on scanning techniques or gene sequencing. When the disease-causing mutation cannot be identified, molecular diagnosis is performed by linkage analysis of several DNA polymorphic markers linked to F8C. Given the clinical heterogeneity among haemophilic patients, many groups, including our own, have examined the relationships between prothrombotic gene variants and haemophilic phenotype to investigate whether prothrombotic gene variants modify clinical expression of the disease. 相似文献
89.
90.
Rainaldi Giuseppe; Meneveri Raffaella; Mariani Laura; Ginelli Enrico; Moretti Arcangela; Vatteroni Lucia 《Mutagenesis》1996,11(4):401-404
Clone CSA7 is a CHEF18 hamster cell line that shows an increasedintracellular accumulation of dCTP. To localize the mutationsthat accumulate spontaneously in a functional gene of such amutator phenotype, independent CSA7 mutants of the hypoxanthineguaninephosphoribosyl transferase (hprt) gene were isolated and screenedby a polymerase chain reactionsingle strand conformationpolymorphism technique. Sixty-two percent of mutants produceddetectable changes of the strand migration profile and the mutationswere preferentially localized in the exons 3 (31%) and 6 (62%).The sequencing of such exons revealed that the rate of C baseincorporation was the major mutation pathway and that the Abase of a GGA sequence was the preferential site of misincorporation.
3To whom correspondence should be addressed 相似文献