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排序方式: 共有380条查询结果,搜索用时 31 毫秒
1.
2.
Solitary bronchioloalveolar carcinoma: CT criteria 总被引:14,自引:0,他引:14
Kuhlman JE; Fishman EK; Kuhajda FP; Meziane MM; Khouri NF; Zerhouni EA; Siegelman SS 《Radiology》1988,167(2):379-382
The computed tomographic (CT) scans of 30 patients with solitary bronchioloalveolar carcinoma were reviewed. Common features at CT included the peripheral or subpleural location of a pulmonary mass (25 cases), pseudocavitation (18 cases), heterogeneous attenuation (17 cases), irregular margins forming a star pattern (22 cases), and pleural tags (21 cases). Using these CT criteria, four independent observers attempted to identify cases of bronchioloalveolar carcinoma from a larger sample of lung cancers and benign lesions by categorizing a series of test cases into four probability categories. Although the bronchioloalveolar carcinomas were correctly ranked in the two highest probability categories 75% of the time (in 45 of 60 cases), there was considerable overlap with other lung lesions, particularly with adenocarcinoma and large cell undifferentiated carcinoma. However, even though the typical features of bronchioloalveolar carcinoma are not invariable or highly specific, they are characteristic enough to suggest the diagnosis. 相似文献
3.
术中射频消融后病灶刮除治疗脊柱转移瘤 总被引:2,自引:1,他引:1
李浩淼 Alessandro Gasbarrini Michele Cappuccio Rakesh Donthineni Lu Boriani Stefano Bandier Laur Foroni Gianandre Pasquinelli Stefano Boriani 《中国脊柱脊髓杂志》2008,18(11)
目的:探讨术中射频消融(RFA)后再行病灶刮除术治疗脊柱转移瘤的可行性及疗效.方法:2004年~2006年,对11例脊柱转移瘤患者术中实施RFA后再行病灶刮除术,将FRA前后病灶标本进行光镜和电镜病理检查,随访患者疼痛缓解情况及肿瘤复发情况.结果:术中未出现脊髓和神经根损伤,RFA后瘤组织固缩,刮除顺利,出血量350~3800ml,平均1024.5ml.全部病例得到6个月以上随访,平均9.8个月,全部患者生存期超过6个月,VAS评分术前平均5.8分,术后6个月时平均1.9分.1例出现局部肿瘤复发.RFA前的标本光、电镜检查均未见肿瘤组织坏死.RFA后光镜检查3例无明显坏死,9例肿瘤细胞完全坏死:电镜检查10例肿瘤细胞完全坏死,1例肿瘤细胞部分坏死,1例无明显坏死.结论:术中RFA后再行病灶刮除治疗脊柱转移瘤安全可行,有利于肿瘤的刮除,减少局部复发的风险. 相似文献
4.
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP) 总被引:2,自引:2,他引:2
Roepman R; Bauer D; Rosenberg T; van Duijnhoven G; van de Vosse E; Platzer M; Rosenthal A; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(6):827-833
The gene for the most frequent from of X-linked retinitis pigmentosa
(XLRP), RP3, has been assigned by genetic and physical mapping to a segment
of less than 1000 kbp, which is flanked by the marker DXS1110 and the
ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have
screened the DNA of 30 unrelated patients with XLRP by employing a
representative set of YAC-derived DNA fragments that were generated by
restriction enzyme digestion and PCR amplification. In one of these
patients, a 6.4 kbp microdeletion was detected which was not present in the
DNA of 444 male controls. A cosmid contig spanning the deletion was
constructed and used to isolate cDNAs from retina-specific libraries. Exons
corresponding to these expressed sequences as well as other putative exons
were identified by sequencing more than 30 kbp of the critical region. So
far, no point mutations in these putative exon sequences have been
identified.
相似文献
5.
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 总被引:6,自引:7,他引:6
Roepman R; van Duijnhoven G; Rosenberg T; Pinckers AJ; Bleeker-Wagemakers LM; Bergen AA; Post J; Beck A; Reinhardt R; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(7):1035-1041
The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-
linked RP (XLRP), has been mapped previously to a chromosome interval of
less than 1000 kbp between the DXS1110 marker and the OTC locus at
Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization
(YRH)', we have recently identified a small XLRP associated microdeletion
in this interval, as well as several putative exons including the 3' end of
a gene that was truncated by the deletion. cDNA library screening and
sequencing of a cosmid centromeric to the deletion has now enabled us to
identify numerous additional exons and to detect several point mutations in
patients with XLRP. The predicted gene product shows homology to RCC1, the
guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our
findings suggest that we have cloned the long-sought RP3 gene, and that it
may encode the GEF of a retina-specific GTP-binding protein.
相似文献
6.
A R Ness F P Cappuccio R W Atkinson K T Khaw D G Cook 《International journal of epidemiology》1999,28(3):450-455
BACKGROUND: People of South Asian origin living in the UK have higher death rates due to coronary heart disease than whites. The reasons for these differences are not fully understood. Previous attempts to relate diet to cardiovascular risk in South Asians have been inconclusive. METHODS: We compared the levels of plasma vitamin C in a cross-sectional population-based study of 1018 men and women aged 40-59 (455 men, 563 women, 328 South Asians, 355 of African descent, 335 whites) co-resident in a geographically defined area of South London, when allowing for potential confounders. RESULTS: Fasting plasma vitamin C levels were significantly higher in women, vegetarians, supplement takers and non-smokers. After adjustment for age, body mass index, current smoking, supplement use and vegetarianism the mean plasma vitamin C levels were 38.8 (SE 1.6) mumol/l in white men, 36.5 (1.6) mumol/l in men of African descent and 32.9 (1.5) mumol/l in South Asian men (P = 0.033 by analysis of co-variance). In women the adjusted mean plasma vitamin C levels were 52.4 (1.6) mumol/l in whites, 46.0 (1.4) mumol/l in women of African descent and 37.3 (1.8) mumol/l in South Asians (P < 0.0001 by analysis of covariance). South Asians had lower levels than whites in both men (difference 6.4 [95% CI: 1.5, 11.3] mumol/l) and women (16.8 [95% CI: 11.5, 22.1] mumol/l). South Asian women, but not men, also had lower levels than those of African descent (8.8 [95% CI: 4.5, 13.1] mumol/l). African women, but not men, had lower levels than white women (6.6 [95% CI: 2.3, 10.9] mumol/l). No significant differences were seen between Caribbeans and West Africans or between South Asian Hindus and Muslims. CONCLUSIONS: These data suggest that important dietary differences in vitamin C exist between different ethnic groups living in England. The larger differences in South Asians may contribute to their increased coronary risk. 相似文献
7.
Comprehensive mutational scanning of the p53 coding region by two- dimensional gene scanning 总被引:2,自引:0,他引:2
A comprehensive mutational scanning test for the p53 coding region based on
multiplex PCR and two-dimensional DNA electrophoresis was designed and
evaluated. In a 2-step multiplex PCR, the p53 coding region (exons 2-11)
was amplified as a single 8646-bp fragment by long- distance PCR in step
one. This fragment served as a template for the subsequent co-amplification
of the individual exons in two multiplex groups in step two. The multiplex
products were then separated, first on the basis of size in non-denaturant
polyacrylamide gels and then on the basis of sequence by denaturing
gradient gel electrophoresis (DGGE). Primers for optimal PCR, melting
behavior and 2-D gel distribution were designed using a recently developed
computer program. The resulting two-dimensional gene scanning (TDGS) test
was evaluated by screening, in a blinded fashion, 29 coded DNA samples from
Li- Fraumeni syndrome patients with previously identified germline
mutations. All mutations were correctly detected. This assay provides an
accurate, cost-effective and non-radioactive method for simultaneous
mutational scanning of all p53 coding exons.
相似文献
8.
Associations between both genetic and environmental biomarkers and lung cancer: evidence of a greater risk of lung cancer in women smokers 总被引:3,自引:4,他引:3
Tang DL; Rundle A; Warburton D; Santella RM; Tsai WY; Chiamprasert S; Hsu YZ; Perera FP 《Carcinogenesis》1998,19(11):1949-1953
This molecular epidemiologic case-control study of lung cancer incorporated
three complementary biomarkers: the glutathione S- transferase M1 (GSTM1)
null genotype, a potential marker of susceptibility, and polycyclic
aromatic hydrocarbon-DNA adducts (PAH- DNA) and sister chromatid exchanges
(SCE), both indicators of environmentally induced genetic damage.
Associations between biomarkers and lung cancer were investigated, as were
possible gene-environment interactions between the GSTM1 null genotype and
tobacco smoke exposure. Subjects included 136 primary non-small cell lung
cancer surgical patients and 115 controls at the Columbia Presbyterian
Medical Center. Questionnaire and Tumor Registry data, pre-treatment blood
samples and biomarker measurements on blood were obtained. Overall, GSTM1
null genotype was significantly associated with lung cancer [odds ratio
(OR) = 2.04, 95% confidence interval (CI) = 1.13-3.68]. ORs for GSTM1 and
lung cancer were significant in females (2.50, 1.09-5.72) and smokers
(2.25, 1.11-4.54) and not significant in males (1.4, 0.58-3.38) and
non-smokers (0.88, 0.18-4.33). However, ORs for males versus females and
smokers versus non-smokers did not differ significantly. The OR for GSTM1
and lung cancer in female smokers was 3.03 (1.09- 8.40), compared with 1.42
(0.53-4.06) in male smokers. In contrast to PAH-DNA adducts in leukocytes,
SCE did not differ between cases and controls. Neither biomarker differed
significantly between the two GSTM1 genotypes. The combined effect of
elevated PAH-DNA adducts and GSTM1 genotype on case-control status (16.19,
1.2-115) appeared multiplicative. Results suggest that the effect of the
GSTM1 null genotype is greatest in female smokers, which is consistent with
other evidence that indicates that women are at higher risk of lung cancer
than males, given equal smoking. Persons with both the GSTM1 deletion and
elevated PAH-DNA adducts may represent a sensitive subpopulation with
respect to carcinogens in tobacco smoke and other environmental media.
相似文献
9.
Amy L. Schneider Candace T. Myers Alison M. Muir Sophie Calvert Alice Basinger M. Scott Perry Lance Rodan Katherine L. Helbig Chelsea Chambers Kathleen M. Gorman Mary D. King Sandra Donkervoort Ariane Soldatos Carsten G. Bnnemann Nino Spataro Elisabeth Gabau Montserrat Arellano Gerarda Cappuccio Nicola Brunetti‐Pierri Elsa Rossignol Fadi F. Hamdan Jacques L. Michaud Christopher Balak Heather C. Mefford Ingrid E. Scheffer 《Epilepsia》2021,62(1):e13-e21
Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders. 相似文献
10.
FP Robertson D Tsironis BR Davidson 《Annals of the Royal College of Surgeons of England》2015,97(5):e77-e78
Diaphragmatic lesions are usually congenital bronchogenic cysts. A patient with a known diaphragmatic cyst presented with new onset right upper quadrant pain. Repeat imaging showed enlargement of the cyst, the CA19–9 cancer marker was raised at 312iu/ml (normal: <27iu/ml) and positron emission tomography combined with computed tomography showed focally increased uptake in the cystic wall. In view of symptoms and risk of neoplasia, the lesion was excised. Histology showed a benign epidermoid cyst. Features falsely suggesting neoplasia have been reported previously with benign splenic cysts but not with a benign diaphragmatic epidermoid cyst. 相似文献