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Fiona Ashford Angus Best Steven J. Dunn Zahra Ahmed Henna Siddiqui Jordan Melville Samuel Wilkinson Jeremy Mirza Nicola Cumley Joanne Stockton Jack Ferguson Lucy Wheatley Elizabeth Ratcliffe Anna Casey Tim Plant The COVID- Genomics UK Consortium Joshua Quick Alex Richter Nicholas Loman Alan McNally 《Journal of clinical microbiology》2022,60(4)
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William C Kreisl Kimberly J Jenko Christina S Hines Chul Hyoung Lyoo Winston Corona Cheryl L Morse Sami S Zoghbi Thomas Hyde Joel E Kleinman Victor W Pike Francis J McMahon Robert B Innis the Biomarkers Consortium PET Radioligand Project Team 《Journal of cerebral blood flow and metabolism》2013,33(1):53-58
Second-generation radioligands for translocator protein (TSPO), an inflammation marker, are confounded by the codominant rs6971 polymorphism that affects binding affinity. The resulting three groups are homozygous for high-affinity state (HH), homozygous for low-affinity state (LL), or heterozygous (HL). We tested if in vitro binding to leukocytes distinguished TSPO genotypes and if genotype could affect clinical studies using the TSPO radioligand [11C]PBR28. In vitro binding to leukocytes and [11C]PBR28 brain imaging were performed in 27 human subjects with known TSPO genotype. Specific [3H]PBR28 binding was measured in prefrontal cortex of 45 schizophrenia patients and 47 controls. Leukocyte binding to PBR28 predicted genotype in all subjects. Brain uptake was ∼40% higher in HH than HL subjects. Specific [3H]PBR28 binding in LL controls was negligible, while HH controls had ∼80% higher binding than HL controls. After excluding LL subjects, specific binding was 16% greater in schizophrenia patients than controls. This difference was insignificant by itself (P=0.085), but was significant after correcting for TSPO genotype (P=0.011). Our results show that TSPO genotype influences PBR28 binding in vitro and in vivo. Correcting for this genotype increased statistical power in our postmortem study and is recommended for in vivo positron emission tomography studies. 相似文献
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International Guillain‐Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain‐Barré syndrome
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![点击此处可从《Journal of the peripheral nervous system : JPNS》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Bart C. Jacobs Bianca van den Berg Christine Verboon Govindsinh Chavada David R. Cornblath Kenneth C. Gorson Thomas Harbo Hans‐Peter Hartung Richard A. C. Hughes Susumu Kusunoki Pieter A. van Doorn Hugh J. Willison the IGOS Consortium 《Journal of the peripheral nervous system : JPNS》2017,22(2):68-76
Guillain‐Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow‐up of 1–3 years. Data are collected via a web‐based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long‐term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS. 相似文献
75.
Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene
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![点击此处可从《Human mutation》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Kristin D. Kernohan David A. Dyment Mihaela Pupavac Zvi Cramer Arran McBride Genevieve Bernard Isabella Straub Martine Tetreault Taila Hartley Lijia Huang Erick Sell Jacek Majewski David S. Rosenblatt Eric Shoubridge Aziz Mhanni Tara Myers Samanta Vergano Brooke Spangler Emily Farrow Jennifer Kussman Nicole Safina CareRare Consortium Carol Saunders Kym M. Boycott Isabelle Thiffault 《Human mutation》2017,38(5):511-516
Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease–gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identification of additional families, several groups have created “matching” platforms. We describe four individuals from three unrelated families “matched” by GeneMatcher and MatchMakerExchange. Individuals had microcephaly, developmental delay, epilepsy, and recessive mutations in TRIT1. A single homozygous mutation in TRIT1 associated with similar features had previously been reported in one family. The identification of these individuals provides additional evidence to support TRIT1 as the disease‐causing gene and interprets the variants as “pathogenic.” TRIT1 functions to modify mitochondrial tRNAs and is necessary for protein translation. We show that dysfunctional TRIT1 results in decreased levels of select mitochondrial proteins. Our findings confirm the TRIT1 disease association and advance the phenotypic and molecular understanding of this disorder. 相似文献
76.
C.A. Harwood A.E. Toland C.M. Proby S. Euvrard G.F.L. Hofbauer M. Tommasino J.N. Bouwes Bavinck the KeraCon Consortium 《The British journal of dermatology》2017,177(5):1217-1224
The pathogenesis of keratinocyte carcinoma following organ transplantation is multifactorial, and recent evidence suggests a complex and often synergistic interplay between the carcinogenic effects of ultraviolet radiation, compromised immune surveillance, direct pro‐ and anticarcinogenic effects of drugs, oncogenic viruses (in particular, beta‐genus human papillomaviruses) and host genetic susceptibility factors. We present an overview of those factors for which there is currently the most convincing evidence and highlight important gaps in our knowledge. In particular, a clear understanding of the interdependence and relative contributions of these co‐factors is currently lacking, yet has important implications for rational development of clinically relevant biomarkers and targeted strategies for treatment and prevention of post‐transplant keratinocyte cancers. 相似文献
77.
David G. Birch Lassana Samarakoon Michele Melia Jacque L. Duncan Allison R. Ayala Isabelle Audo Janet K. Cheetham Todd A. Durham Alessandro Iannaccone Mark E. Pennesi Katarina Stingl for the Foundation Fighting Blindness Consortium Investigator Group 《Investigative ophthalmology & visual science》2022,63(3)
PurposeTo measure visual fields using two-color dark-adapted chromatic perimetry in a subset of participants in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A), a study of USH2A-mediated syndromic (USH2) and autosomal recessive nonsyndromic retinitis pigmentosa, determine percentage retaining rod function, and explore relationships between dark-adapted visual fields (DAVF) and rod function from ERG and full-field stimulus thresholds (FST).MethodsFull-field rod mean sensitivity, number of rod loci, maximum sensitivity, DAVF full-field hill of vision (DAVF VTOT), and 30° hill of vision (DAVF V30) were measured in one eye for DAVF ancillary study participants (n = 49). Loci where cyan relative to red sensitivity was more than 5 dB on dark-adapted chromatic perimetry were considered rod mediated. Correlation coefficients between the DAVF measures and standard clinical measures were estimated, as were kappa statistics (κ) for agreement between DAVF and other measures of rod function.ResultsOf 49 participants tested with DAVF, 38 (78%) had evidence of rod function, whereas 15 (31%) had measurable rod ERGs. DAVF maximum sensitivity was highly correlated with FST white thresholds (r = −0.80; P < .001). Although not statistically significant, the number of rod loci and DAVF VTOT were lower in eyes with longer disease duration by 0.82 (95% confidence interval, −1.76, 0.12) loci/year and 0.59 (95% confidence interval, −1.82, 0.64) dB-steradians/year, respectively.ConclusionsRod-mediated function on FST and DAVF is present in many patients with symptomatic USH2A-related retinal degeneration, including some without measurable rod ERGs. RUSH2A longitudinal data will determine how these measures change with disease progression and whether they are useful for longitudinal studies in inherited retinal degenerations. 相似文献
78.
James R Nsereko Dorothy Kizza Fred Kigozi Joshua Ssebunnya Sheila Ndyanabangi Alan J Flisher Sara Cooper MHaPP Research Programme Consortium 《International journal of mental health systems》2011,5(1):5
Introduction
Mental health facilities in Uganda remain underutilized, despite efforts to decentralize the services. One of the possible explanations for this is the help-seeking behaviours of people with mental health problems. Unfortunately little is known about the factors that influence the help-seeking behaviours. Delays in seeking proper treatment are known to compromise the outcome of the care. 相似文献79.
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