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排序方式: 共有10000条查询结果,搜索用时 31 毫秒
961.
Christian Harcken Doris Riether Pingrong Liu Hossein Razavi Usha Patel Thomas Lee Todd Bosanac Yancey Ward Mark Ralph Zhidong Chen Donald Souza Richard M. Nelson Alison Kukulka Tazmeen N. Fadra-Khan Ljiljana Zuvela-Jelaska Mita Patel David S. Thomson Gerald H. Nabozny 《ACS medicinal chemistry letters》2014,5(12):1318-1323
962.
Nelson R. Cabej 《Developmental dynamics》2020,249(10):1172-1181
Spatially restricted expression of genes by global circulating inducers (hormones, secreted proteins, growth factors, neuromodulators, etc.) was a prerequisite for the evolution of animals. Far from a random occurrence, it is a systematically occurring, certain event, implying that specific information is invested for it to happen. In this minireview, we show for the first time that the expression and regionalization takes place at the level of receptors via a neural mechanism and make an attempt to reconstruct the causal chain from neural signaling to expression of nuclear receptors. 相似文献
963.
Kathie J. Ngo Jessica E. Rexach Hane Lee Lauren E. Petty Susan Perlman Juliana M. Valera Joshua L. Deignan Yuanming Mao Mamdouh Aker Jennifer E. Posey Shalini N. Jhangiani Zeynep H. Coban‐Akdemir Eric Boerwinkle Donna Muzny Alexandra B. Nelson Sharon Hassin‐Baer Gemma Poke Katherine Neas Michael D. Geschwind Wayne W. Grody Richard Gibbs Daniel H. Geschwind James R. Lupski Jennifer E. Below Stanley F. Nelson Brent L. Fogel 《Human mutation》2020,41(2):487-501
Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole‐exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this method remains ill‐defined, hindering efforts to address the remaining diagnostic gap. To further assess the role of rare coding variation in ataxic disorders, we reanalyzed our previously published exome cohort of 76 predominantly adult and sporadic‐onset patients, expanded the total number of cases to 260, and introduced analyses for copy number variation and repeat expansion in a representative subset. For new cases (n = 184), our resulting clinically relevant detection rate remained stable at 47% with 24% classified as pathogenic. Reanalysis of the previously sequenced 76 patients modestly improved the pathogenic rate by 7%. For the combined cohort (n = 260), the total observed clinical detection rate was 52% with 25% classified as pathogenic. Published studies of similar neurological phenotypes report comparable rates. This consistency across multiple cohorts suggests that, despite continued technical and analytical advancements, an approximately 50% diagnostic rate marks a relative ceiling for current WES‐based methods and a more comprehensive genome‐wide assessment is needed to identify the missing causative genetic etiologies for cerebellar ataxia and related neurodegenerative diseases. 相似文献
964.
Malek Kammoun Jerome Piquereau Lydie Nadal‐Desbarats Sandra Même Maud Beuvin Gisle Bonne Vladimir Veksler Yann Le Fur Philippe Pouletaut William Même Frederic Szeremeta Jean‐Marc Constans Elizabeth S. Bruinsma Molly H. Nelson Holte Zeynab Najafova Steven A. Johnsen Malayannan Subramaniam John R. Hawse Sabine F. Bensamoun 《Acta physiologica (Oxford, England)》2020,228(3)
965.
966.
Silvano Wendel Jose Mauro Kutner Rafael Machado Rita Fontão-Wendel Carolina Bub Roberta Fachini Ana Yokoyama Gabriela Candelaria Araci Sakashita Ruth Achkar Nelson Hamerschlak Patricia Scuracchio Marcelo Amaral Mirian Dal Ben Danielle Araujo Camila Soares Anamaria Camargo Esper Kallás Edison Durigon Luiz Fernando Reis Luiz Vicente Rizzo 《Transfusion》2020,60(12):2938-2951
967.
Soohyun Nam Genevieve F. Dunton Monica R. Ordway Garrett I. Ash Sangchoon Jeon David Vlahov Robin Whittemore LaRon E. Nelson Rajita Sinha Marcella Nunez-Smith Douglas A. Granger 《Research in nursing & health》2020,43(5):453-464
Perceived racial discrimination is linked to unhealthy behaviors and stress-related morbidities. A compelling body of research indicates that perceived racial discrimination may contribute to health disparities among African Americans (AAs). The purposes of this study were to describe the study protocol including data collection procedures and study measures and to evaluate the feasibility and acceptability of intensive biobehavioral data collection using ecological momentary assessment (EMA), salivary biomarkers, and accelerometers over 7 days among middle-aged AAs with a goal of understanding the relationships between perceived racial discrimination and biobehavioral responses to stress. Twelve AA men and women participated in the feasibility/acceptability study. They completed surveys, anthropometrics, and received in-person training in EMA and saliva sample collection at baseline. Participants were asked to respond to the random prompt text message-based EMA five times a day, wear an accelerometer daily for 7 days, and to self-collect saliva samples four times a day for 4 consecutive days. The EMA surveys included perceived racial discrimination, affective states, lifestyle behaviors, and social and physical contexts. The mean EMA response rate was 82.8%. All participants collected saliva samples four times a day for 4 consecutive days. About 83% of participants wore the accelerometer on the hip 6 out of 7 days. Despite the perception that the intensive nature of assessments would result in high participant burden, the acceptability of the study procedures was uniformly favorable. 相似文献
968.
969.
Sandy R. Larson Jessica Chin Xiaotun Zhang Lisha G. Brown Ilsa M. Coleman Bryce Lakely Martin Tenniswood Eva Corey Peter S. Nelson Robert L. Vessella Colm Morrissey 《Clinical & experimental metastasis》2014,31(2):247-256
Approximately 90 % of patients who die of prostate cancer (PCa) have bone metastases, often promoting osteoblastic lesions. We observed that 88 % of castration-resistant PCa (CRPC) bone metastases express prostatic acid phosphatase (PAP), a soluble secreted protein expressed by prostate epithelial cells in predominately osteoblastic (n = 18) or osteolytic (n = 15) lesions. Additionally, conditioned media (CM) of an osteoblastic PCa xenograft LuCaP 23.1 contained significant levels of PAP and promoted mineralization in mouse and human calvaria-derived cells (MC3T3-E1 and HCO). To demonstrate that PAP promotes mineralization, we stimulated MC3T3-E1 cells with PAP and observed increased mineralization, which could be blocked with the specific PAP inhibitor, phosphonic acid. Furthermore, the mineralization promoted by LuCaP 23.1 CM was also blocked by phosphonic acid, suggesting PAP is responsible for the mineralization promoting activity of LuCaP 23.1. In addition, gene expression arrays comparing osteoblastic to osteolytic CRPC (n = 14) identified betacellulin (BTC) as a gene upregulated during the osteoblastic response in osteoblasts during new bone formation. Moreover, BTC levels were increased in bone marrow stromal cells in response to LuCaP 23.1 CM in vitro. Because new bone formation does occur in osteoblastic and can occur in osteolytic CRPC bone metastases, we confirmed by immunohistochemistry (n = 36) that BTC was highly expressed in osteoblasts involved in new bone formation occurring in both osteoblastic and osteolytic sites. These studies suggest a role for PAP in promoting the osteoblastic reaction in CRPC bone metastases and identify BTC as a novel downstream protein expressed in osteoblasts during new bone formation. 相似文献
970.
Danielle M. Novick Lucy Allbaugh Zhuo Zhao Erin Henshaw Delia M. Vazquez Roseanne Armitage Heather Flynn 《Archives of women's mental health》2014,17(2):97-105
The aims of this study were to evaluate the feasibility of integrating archival datasets from depression projects involving pregnant women recruited from obstetric clinics and then assess the representativeness of the integrated dataset. Datasets from six studies were standardized and integrated. Chi-square, t-, and Wilcoxon rank-sum tests were used to compare characteristics between women who completed a depression screening questionnaire (DSQ) and were (1) eligible and ineligible for research participation and (2) eligible women who accepted and declined participation. The integrated dataset comprises 9,112 pregnant women, of whom 71.0 % (n?=?6,472) were ineligible for participation because their DSQ scores indicated no-to-minimal depressive symptoms (NDS). Among the 23.9 % (2,176) of women identified as eligible, in part, because their DSQ scores indicated elevated levels of depressive symptoms (EDS), 29.6 % (644) of women participated (P-EDS) and 47.6 % (1,036) of women did not participate (D-EDS). While the NDS and EDS groups were significantly different on almost all variables, the P-EDS and D-EDS groups were significantly different on only a few variables. Compared to the D-EDS group, the P-EDS group was earlier in pregnancy and, on the Edinburgh Postnatal Depression Screen, was more likely to endorse impaired “ability to laugh” and “enjoy oneself”, and endorse at greater severity “ability to laugh.” It is a reasonable and feasible strategy to integrate thematically similar datasets to increase statistical power. Additionally, typical recruitment strategies for minimal risk perinatal depression research at obstetric clinics, during routine prenatal care visits, appear to produce an externally valid study cohort. 相似文献