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Flavia M. N. P. Aslanian Maria Teresa Q. Marques Haroldo J. Matos Luciane F. S. Pontes Luis Cristvo S. Porto Lucia M. S. Azevedo Absalom L. Filgueira 《Journal der Deutschen Dermatologischen Gesellschaft》2006,4(10):842-847
Background: Lichen sclerosus (LS) has been identified with increased frequency in families,often associated with HLA markers, mainly DQ7. A genetic co‐etiology seems likely in this setting. Moreover, there is an association of LS with autoimmune disorders, such as the presence of anti‐thyroid peroxidase autoantibodies (anti‐TPO), a hallmark of autoimmune thyroid diseases. Patients and Methods: In 3 families affected by LS, we verified their HLA markers, and identified previously undiagnosed cases of LS and autoimmune disorders. 30 individuals were examined with history, skin biopsy, HLA class I and II typing by PCR‐SSP, and measurement of anti‐TPO, free thyroxine and thyroidstimulating hormones (TSH) levels. Results: There were 8 cases of LS, 50 % of them anti‐TPO+. Autoimmune disorders were found in 40 % (total) and in 87.5 % of those affected. Most common HLA markers were B*15, B*57, CW*03, CW*07, CW*18, DRB1*04, DRB1*07, DRB4*. The three latter have been previously associated with LS. Conclusion: New cases of LS and autoimmune disorders can be detected in first degree relatives of patients with LS. The presence of anti‐TPO antibodies strongly suggests autoimmune thyroiditis. There is intra‐familial association between the haplotype HLA‐B*15 ‐DRB1*04 ‐DRB4* and anti‐TPO,emphasizing their link with thyroiditis. New familial approaches might help to make clear the pathogenesis of LS and its association with autoimmune diseases. 相似文献
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JM Martín† L Calduch† C Monteagudo‡ I Molina† D Ramón† V Alonso† E Jordᆠ《Journal of the European Academy of Dermatology and Venereology》2006,20(4):428-431
Cutaneous plasmacytosis is a rare disorder characterized by a benign proliferation of mature plasma cells that appears as multiple dark-brown to purplish skin lesions, often associated with polyclonal hypergammaglobulinaemia. We present the case of a 55-year-old Caucasian man who suffered from a cutaneous plasmacytosis associated with two different carcinomas. Cutaneous plasmacytosis seems to be a reactive process because most cases reported are not associated with any apparent underlying disease. Nevertheless, because few reported cases were associated with malignancies, screening of additional neoplasms would be justified. 相似文献
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L. Porto E. Hattingen U. Pilatus M. Kieslich B. Yan D. Schwabe F. E. Zanella H. Lanfermann 《Child's nervous system》2007,23(3):305-314
Background Diagnosis of brainstem lesions in children based on magnetic resonance imaging alone is a challenging problem. Magnetic resonance
spectroscopy (MRS) is a noninvasive technique for spatial characterization of biochemical markers in tissues and gives information
regarding cell membrane proliferation, neuronal damage, and energy metabolism.
Methods We measured the concentrations of biochemical markers in five children with brainstem lesions and evaluated their potential
diagnostic significance. Images and spectra were acquired on a 1.5-T imager. The concentrations of N-acetylaspartate, tetramethylamines (e.g., choline), creatine, phosphocreatine, lactate, and lipids were measured within lesions
located at the brainstem using Point-resolved spectroscopy sequences.
Results Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem encephalitis, demyelination, dysmyelination
secondary to neurofibromatosis type 1 (NF 1), and possible infection or radiation necrosis. In all but one patient, diagnosis
was confirmed by biopsy or by clinical follow-up.
Conclusions This small sample of patients suggests that MRS is important in the differential diagnosis between proliferative and nonproliferative
lesions in patients without neurofibromatosis. Unfortunately, in cases of NF 1, MRS can have a rather misdiagnosis role. 相似文献
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Hyo-Chang Kim Seok-Gu Kang Pil-Woo Huh Do Sung Yoo Kyoung Suok Cho Dal Soo Kim 《Journal of clinical neuroscience》2007,14(11):1135-1139
Pituitary abscess is a rare and potentially lethal condition. Pituitary abscess in a pregnant woman has not been previously described. A 38-year-old pregnant woman (34 weeks gestation) with a pituitary mass complained of a progressive headache and sudden visual impairment. She was afebrile and had no inflammatory symptoms on admission. On MRI, the preoperative diagnosis was pituitary adenoma with sphenoid sinusitis. She underwent an uncomplicated transsphenoidal procedure for removal of the pituitary mass. The next day, labor commenced and a healthy preterm baby was delivered. Pathologic examination of the intrasellar mass showed polymorphonuclear cells, debris and no tumor cells. The sellar contents were cultured and Streptococcus viridans was grown. To our knowledge this is the first case of pituitary abscess reported during pregnancy. Although the patient was pregnant, the transsphenoidal approach was safe for the mother and the fetus. Surgical drainage and antibiotic therapy are required for the definitive treatment of this condition. 相似文献
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JM Vilanova J Figueras-Aloy J Roselló G Gómez E Gelpí R Jiménez 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(5):588-592
The aim of this study was to evaluate the cerebral synthesis of eicosanoids in the asphyctic newborn and to investigate the relation between the prostanoid profiles in cerebrospinal fluid (CSF) and the appearance and severity of hypoxic-ischaemic encephalopathy (HIE). Levels of 6-keto-PGF 1-α, TXB2 , PGE2 and PGF2-α in CSF were measured in 40 full term newborns during the first day of life. Thirty of these newborns had birth asphyxia and were divided into three groups: 10 without HIE, 12 with mild HIE and 8 with moderate-severe HIE. They were compared to a control group of 10 non-hypoxic newborns. Determinations of the metabolites in CSF were performed by RIA and expressed as pg/ml (mean ± SD). The CSF TXB2 (thromboxane A2 metabolite) in asphyxiated newborns was always higher than in the control group (28.12 ± 10.6), and related to the severity of HIE ( p = 0:005): without HIE (50.84 ± 16.4; p = 0:02), mild HIE (80.65 ± 12.64; p ± 0:01) and moderate-severe HIE (178.14 ± 20.5; p < 0:01). The CSF 6-keto-PGF 1-α (prostacyclin metabolite) in asphyxiated newborns was always higher than in the control group (80.55 ± 12.56), but indirectly related to the severity of HIE: without HIE (240.95 ± 28.12; p < 0:01), mild HIE (183.65 ± 30.1; p < 0:01) and moderate-severe HIE (140.55 ± 25.12; p < 0:01). In the moderate-severe HIE group, the increase in TXB2 was higher than the rise in 6-keto-PGF 1-α . 相似文献
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A. P. Dei Tos Paola Dal Cin 《Virchows Archiv : an international journal of pathology》1997,431(2):83-94
Soft tissue tumours represent a heterogeneous group of mesenchymal lesions, and their classification is the subject of continuous
debate. Chromosome analysis, molecular cytogenetics and molecular assays may become increasingly useful in diagnosis, and
this review summarises advances in the cytogenetic characterisation and classification of soft tissue tumours. Among the group
of fibrous lesions, superficial fibromatosis exhibits trisomy 8. This genomic change is also observed in desmoid fibromatosis
in association with trisomy 20. Trisomy 11 is the most frequently observed chromosomal aberration in congenital fibrosarcoma.
Dermatofibrosarcoma protuberans and giant cell fibroblastoma share a translocation t(17;22), which supports the concept of
the existence of a common differentiation pathway. Adipose tissue tumours is the group in which integration of genetics and
pathology has been most fruitful. Ordinary lipomas cytogenetically show an abnormal karyotype in about half the cases. Genomic
changes of the 11q13 region are observed in hibernoma. Lipoblastoma exhibits a specific 8q rearrangement in 8q11-q13. Loss
of material from the region 16q13-qter and 13q deletions are observed in spindle cell/pleomorphic lipomas. The well-differentiated
liposarcoma/atypical lipoma group is characterised karyotypically by the presence of one extra ring and/or extra giant chromosome
marker. Myxoid and round cell liposarcoma share the same characteristic chromosome change: t(12;16)(q13;p11) in most cases.
In the group of smooth muscle lesions most data are derived from uterine leiomyomas, which can be subclassified cytogenetically
into seven different types. Half of all leiomyomas are chromosomally normal; the other half have one of six possible consistent
chromosome changes. Alveolar rhabdomyosarcoma is characterised cytogenetically by two variant translocations t(2;13)(q35;q14)
and t(1;13)(p36;q14). Among tenosynovial tumours, the localised type of giant cell tumour of tendon sheath exhibits two different
karyotypic changes. One involves 1p11 in a translocation with chromosome 2 or with another chromosome. A second type involves
16q24. Synovial sarcoma is characterised cytogenetically by a translocation occurring between chromosome 18 and presumably
two adjacent loci on the X chromosome. In neural tumours, abnormalities of chromosome 22 have been reported in benign schwannomas
and perineuriomas. Malignant peripheral nerve sheath tumours exist in two main forms: sporadic and associated with the NF-1
syndrome. Karyotypes are very complex, but chromosomes 17q and 22q are very often involved. Clear cell sarcoma is characterised
cytogenetically and molecularly by a translocation t(12;22)(q13;q12). The Ewing’s sarcoma/peripheral neuroectodermal tumour
category shows a central karyotypic anomaly represented by the translocation t(11;22). The two variants t(21;22) and t(7;22)
are found in some cases. Among cartilaginous lesion, the most frequently described anomaly is the t(9;22)(q22;q12) in extraskeletal
myxoid chondrosarcoma. Intra-abdominal desmoplastic small round cell tumour is characterised by a t(11;22)(p13;q12).
Received: 5 February 1997 / Accepted: 24 February 1997 相似文献