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181.
Laurich VM Trbovich AM O'Neill FH Houk CP Sluss PM Payne AH Donahoe PK Teixeira J 《Endocrinology》2002,143(9):3351-3360
Müllerian inhibiting substance (MIS) is produced by fetal Sertoli cells and causes regression of the Müllerian duct in male fetuses shortly after commitment of the bipotential embryonic gonad to testes differentiation. MIS is also produced by the Sertoli cells and granulosa cells of the adult gonads where it plays an important role in regulating steroidogenesis. We have previously shown that MIS can dramatically reduce testosterone synthesis in Leydig cells by inhibiting the expression of cytochrome P450 17alpha-hydroxylase/C(17-20) lyase (Cyp17) mRNA in vitro and in vivo. To characterize the signal transduction pathway used by MIS to control expression of endogenous Cyp17 in a mouse Leydig cell line, we demonstrate that MIS inhibits both LH- and cAMP-induced expression of Cyp17 at concentrations as low as 3.5 nM and for as long as 18 h. The induction of steroidogenic acute regulatory protein (StAR) mRNA by cAMP, however, was slightly increased by addition of MIS. Protein kinase A (PKA) inhibition with H-89 blocked Cyp17 mRNA induction, suggesting that MIS interferes with the PKA signal transduction pathway. Inhibition of Cyp17 induction was not seen with added U0126, and wortmannin inhibited the induction incompletely. In addition, phosphorylation of the cAMP responsive element binding protein (CREB) was not detected following 50 micro M cAMP exposure, a concentration sufficient for Cyp17 mRNA induction. Moreover, CREB phosphorylation, which was observed with addition of 500 micro M cAMP, was not inhibited by coincubation with MIS. Taken together, these results suggest that cAMP induces expression of Cyp17 by a PKA-mediated mechanism and that this induction, which is inhibited by MIS signal transduction, does not require CREB activity, and is distinct from that used to induce steroidogenic acute regulatory protein expression. 相似文献
182.
Mamtesh Gupta Rajnish Juneja Anita Saxena 《Catheterization and cardiovascular interventions》2003,58(4):545-547
Percutaneous closure of ventricular septal defect and pulmonary valvuloplasty appears to be an attractive modality when compared to surgical treatment for both lesions. We report successful transcatheter closure of muscular ventricular septal defect with pulmonary valve balloon dilation performed simultaneously in a 27-year-old woman. Technical considerations in such a setting are being discussed. 相似文献
183.
Maxence Meyer MD Lidia Calabrese MD Anita Meyer MD Florentin Constancias PhD Louise F. Porter MD PhD Marion Muller Manon Leitner Amandine Leitner Antonin Michaud Georges Kaltenbach MD PhD Elise Schmitt MD PhD Patrick Karcher MD Erik Sauleau MD PhD Saïd Chayer PhD HDR Floriane Zeyons MD Marianne Riou MD Soraya El Ghannudi Abdo MD Frédéric Blanc MD PhD Samira Fafi-Kremer PharmD PhD Aurélie Velay PharmD PhD Thomas Vogel MD PhD 《Journal of the American Geriatrics Society》2021,69(5):1167-1170
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David A. Ganz MD PhD Anita H. Yuan PhD MPH Erich J. Greene PhD Nancy K. Latham PT PhD Katy Araujo MPH Albert L. Siu MD MSPH Jay Magaziner MSHyg PhD Jerry H. Gurwitz MD Albert W. Wu MD MPH Neil B. Alexander MD Robert B. Wallace MD MSc Susan L. Greenspan MD Jeremy Rich DPM Elena Volpi MD PhD Stephen C. Waring DVM PhD Patricia C. Dykes RN PhD MA Fred Ko MD MS Neil M. Resnick MD Siobhan K. McMahon PhD MPH GNP Shehzad Basaria MD Rixin Wang PhD Charles Lu MS Denise Esserman PhD James Dziura PhD Michael E. Miller PhD Thomas G. Travison PhD Peter Peduzzi PhD Shalender Bhasin MB BS David B. Reuben MD Thomas M. Gill MD 《Journal of the American Geriatrics Society》2022,70(11):3221-3229
189.
Bernt Popp Svein I St?ve Sabine Endele Line M Myklebust Juliane Hoyer Heinrich Sticht Silvia Azzarello-Burri Anita Rauch Thomas Arnesen André Reis 《European journal of human genetics : EJHG》2015,23(5):602-609
Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity. 相似文献
190.
Daniel Quan Lucía Luna Wong Anita Shallal Raghav Madan Abel Hamdan Heaveen Ahdi Amir Daneshvar Manasi Mahajan Mohamed Nasereldin Meredith Van Harn Ijeoma Nnodim Opara Marcus Zervos 《Journal of general internal medicine》2021,36(5):1302
BackgroundThe impact of race and socioeconomic status on clinical outcomes has not been quantified in patients hospitalized with coronavirus disease 2019 (COVID-19).ObjectiveTo evaluate the association between patient sociodemographics and neighborhood disadvantage with frequencies of death, invasive mechanical ventilation (IMV), and intensive care unit (ICU) admission in patients hospitalized with COVID-19.DesignRetrospective cohort study.SettingFour hospitals in an integrated health system serving southeast Michigan.ParticipantsAdult patients admitted to the hospital with a COVID-19 diagnosis confirmed by polymerase chain reaction.Main MeasuresPatient sociodemographics, comorbidities, and clinical outcomes were collected. Neighborhood socioeconomic variables were obtained at the census tract level from the 2018 American Community Survey. Relationships between neighborhood median income and clinical outcomes were evaluated using multivariate logistic regression models, controlling for patient age, sex, race, Charlson Comorbidity Index, obesity, smoking status, and living environment.Key ResultsBlack patients lived in significantly poorer neighborhoods than White patients (median income: $34,758 (24,531–56,095) vs. $63,317 (49,850–85,776), p < 0.001) and were more likely to have Medicaid insurance (19.4% vs. 11.2%, p < 0.001). Patients from neighborhoods with lower median income were significantly more likely to require IMV (lowest quartile: 25.4%, highest quartile: 16.0%, p < 0.001) and ICU admission (35.2%, 19.9%, p < 0.001). After adjusting for age, sex, race, and comorbidities, higher neighborhood income ($10,000 increase) remained a significant negative predictor for IMV (OR: 0.95 (95% CI 0.91, 0.99), p = 0.02) and ICU admission (OR: 0.92 (95% CI 0.89, 0.96), p < 0.001).ConclusionsNeighborhood disadvantage, which is closely associated with race, is a predictor of poor clinical outcomes in COVID-19. Measures of neighborhood disadvantage should be used to inform policies that aim to reduce COVID-19 disparities in the Black community.Supplementary InformationThe online version contains supplementary material available at 10.1007/s11606-020-06527-1.KEY WORDS: COVID-19, disparities, disadvantage, socioeconomic status, race 相似文献