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101.
Kelly M. Morgan Jada G. Hamilton Heather Symecko Daniella Kamara Colby Jenkins Jenny Lester Kelsey Spielman Lydia E. Pace Camila Gabriel Jeffrey D. Levin Prince Rainier Tejada Anthony Braswell Vanessa Marcell Temima Wildman Bryan Devolder Robin Camhi Baum Jeremy N. Block Yuri Fesko Kenneth Offit 《Genetics in medicine》2022,24(3):564-575
PurposeThis study aimed to evaluate uptake and follow-up using internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs).MethodsAcross 4 cities in the United States, from December 2017 to March 2020, individuals aged ≥25 years with ≥1 Ashkenazi Jewish grandparent were offered enrollment. Participants consented and enrolled online with chatbot and video education, underwent BRCA1/2 AJPV GT, and chose to receive results from their primary care provider (PCP) or study staff. Surveys were conducted at baseline, at 12 weeks, and annually for 5 years.ResultsA total of 5193 participants enrolled and 4109 (79.1%) were tested (median age = 54, female = 77.1%). Upon enrollment, 35.1% of participants selected a PCP to disclose results, and 40.5% of PCPs agreed. Of those tested, 138 (3.4%) were AJPV heterozygotes of whom 21 (15.2%) had no significant family history of cancer, whereas 86 (62.3%) had a known familial pathogenic variant. At 12 weeks, 85.5% of participants with AJPVs planned increased cancer screening; only 3.7% with negative results and a significant family history reported further testing.ConclusionAlthough continued follow-up is needed, internet-enabled outreach can expand access to targeted GT using a medical model. Observed challenges for population genetic screening efforts include recruitment barriers, improving PCP engagement, and increasing uptake of additional testing when indicated. 相似文献
102.
Dominique P. Germain Michael Arad Alessandro Burlina Perry M. Elliott Bruno Falissard Ulla Feldt-Rasmussen Max J. Hilz Derralynn A. Hughes Alberto Ortiz Christoph Wanner Frank Weidemann Marco Spada 《Molecular genetics and metabolism》2019,126(3):224-235
BackgroundHeterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients.MethodsA comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type.ResultsClinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease.ConclusionsThis review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results. 相似文献
103.
Obesity and postmenopausal bone loss: The influence of obesity on vertebral density and bone turnover in postmenopausal women 总被引:3,自引:0,他引:3
This study was undertaken to evaluate the effect of obesity on the postmenopausal bone mass. Bone mineral density, measured by dual photon absorptiometry of the lumbar spine, serum osteocalcin (OC), fasting urinary calcium to creatinine (Ca:Cr), serum estradiol (E2) dehydroepiandrosterone (DHA) and testosterone (T) were measured in 176 women aged 45–71 years. Women were divided into four groups according to their menopausal status and their weight: 49 perimenopausal, 28 obese perimenopausal, 49 obese postmenopausal. Within each population (perimenopausal and postmenopausal), mean age was the same, only weight was significantly different (p < 0.0001). For the two groups of postmenopausal women mean interval since menopause (YSM) was the same (5.8 ± 3 and 5.4 ± 5 yr). Comparison between groups revealed a significant effect of menopausal status and obesity on BMD and bone turnover. As compared to perimenopausal women, BMD was lower, OC and Ca: Cr higher only in nonobese-postmenopausal women. E2, T, DHA did not differ between the two groups of postmenopausal women. The results of this study suggest that even moderate obesity can play a protective role on postmenopausal bone loss. 相似文献
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105.
Emmanuel I. Benizri Adeline Germain Ahmet Ayav Jean-Louis Bernard Rasa Zarnegar Daniel Benchimol Laurent Bresler Laurent Brunaud 《Journal of robotic surgery》2014,8(2):125-132
Robotic surgery offers potential technical advantages that may facilitate pancreatic resection. The aim of this study was to evaluate the learning curve and short-term perioperative outcomes in patients who underwent laparoscopic and robot-assisted distal pancreatectomy. All perioperative variables were evaluated and compared retrospectively between laparoscopic (LDP) (n = 23) and robot-assisted (RDP) (n = 11) distal pancreatectomy. The mean total operative time was shorter in LDP (194 vs. 225 min; p = 0.017). All other perioperative criteria were similar between LDP and RDP patients (blood loss, transfusion rate, conversion, pancreatic fistula, postoperative morbidity, and duration of hospitalization). Non-adjusted CUSUM curve for composite events including operative time, conversion, postoperative morbidity and reoperation rates showed that the RDP learning curve corresponded to the first seven consecutive patients. During early experience, RDP was associated with longer operative time but similar short-term perioperative outcomes compared to conventional distal pancreatectomy. 相似文献
106.
Nair Lopes Bárbara Sousa Daniella Vieira Fernanda Milanezi & Fernando Schmitt 《Histopathology》2009,55(5):594-599
Aims: To evaluate the relationship between microvessel density assessed by endoglin expression and the molecular subtypes of human invasive breast carcinomas and whether there is evidence to indicate that angiogenesis could be a putative target for therapy in specific subsets of breast cancer.
Methods and results: We studied a series of 161 breast carcinomas, but information was available on only 142 tumours. We correlated endoglin expression with distinct breast carcinoma subgroups classified according to immunohistochemical profiling. Additionally, we compared it with other biomarkers for the aggressive basal-like subset and with available histopathological data. Although the basal-like subtype has higher microvessel density, there are no significant differences with the other molecular subtypes of breast cancer.
Conclusions: This study found no significant differences in tumour vascularity in different molecular subtypes of breast cancer. 相似文献
Methods and results: We studied a series of 161 breast carcinomas, but information was available on only 142 tumours. We correlated endoglin expression with distinct breast carcinoma subgroups classified according to immunohistochemical profiling. Additionally, we compared it with other biomarkers for the aggressive basal-like subset and with available histopathological data. Although the basal-like subtype has higher microvessel density, there are no significant differences with the other molecular subtypes of breast cancer.
Conclusions: This study found no significant differences in tumour vascularity in different molecular subtypes of breast cancer. 相似文献
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110.
Rozany Mucha Dufloth M.D. Ph.D. Jacy Maria Alves M.S. Diana Martins B.Sc. Daniella Serafin Couto Vieira M.D. M.Sc. Horácio Chikota M.D. Luiz Carlos Zeferino M.D. Ph.D. Fernando Schmitt M.D. Ph.D. F.I.A.C. 《Diagnostic cytopathology》2009,37(11):809-814
Breast carcinoma is a heterogeneous disease. It can be classified into phenotypes based on the expression of certain proteins, with distinct differences in prognosis. The basal phenotype is associated with worse prognosis and it still remains without specific treatment. However, there is currently no international consensus on the cytological criteria that could predict this phenotype. The purpose of the study was to evaluate the cytological criteria in fine‐needle aspiration biopsy and to identify their association with the basal phenotype of breast carcinoma. Fine‐needle aspiration biopsy specimens and tissue sections (mastectomy specimen) from 74 cases of high‐grade invasive ductal breast carcinomas were consecutively retrieved from the files of three institutions. Breast carcinomas were studied using the tissue microarray technique, being classified into phenotypes: luminal A, luminal B, HER2 overexpression, and basal. The cytological criteria for all cases were reviewed blindly by two pathologists according to five cytological criteria: cellularity, cell pattern, presence of necrosis, nucleoli, and nuclear atypia. Exact Fisher test was used to test the association between cytological criteria and the phenotypes of breast carcinoma. Necrosis was present in 64.7% of basal breast carcinomas, and 31.1% of nonbasal breast carcinomas, and that result was statistically significant, showing an odds ratio (OR) of 3.80. The basal phenotype, compared with the luminal A, showed more necrosis (OR = 6.97), present/prominent nucleoli (OR = 8.18), and cellularity more frequently (OR = 18.03). Necrosis, as well as present/prominent nucleoli and abundant cellularity are criteria more frequently associated to the basal phenotype of breast carcinoma. Diagn. Cytopathol. 2009. © 2009 Wiley‐Liss, Inc. 相似文献