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31.
In this study, botulinum neurotoxin type A (BoTx/A) was injected into the temporalis and masseter muscles of growing rats to induce masticatory hypoactivity. Sixty, 30-day-old, male Long-Evans rats were randomly divided into four groups. BoTx/A was bilaterally injected in the masseter muscles in group I, in the temporalis muscles in group II, and into both the masseter and the temporalis muscles in group III. Group IV served as the control in which saline was bilaterally injected into both muscles. Forty-five days after the injections, the rats were sacrificed. Observation of cortical bone thickness from bone biopsies of the right halves of the mandibles, evaluation of the volume of masseter and temporalis muscles with a plethysmometer, and scanning of bone mineral density (BMD) of the skull and mandibular bone structure with dual-energy X-ray absorptiometry were performed. One-way analysis of variance was employed to analyse measurements of muscle volume, BMD, and cortical bone thickness among the groups. The least square difference was then used to determine significance. Reduced cortical bone thickness and BMD of the skull and mandibular bone structure were observed. The volumes of the temporalis and masseter muscles injected with BoTx/A were smaller. Masticatory hypofunction affects bone structure during development. 相似文献
32.
33.
Haitao Wu Jing Gao Xia Wang Tsz Ying Leung Yong-Gang Duan Philip C. N. Chiu 《Andrologia》2020,52(5):e13565
Platelet-activating factor (PAF) affects capacitation, acrosome reaction and fertilisation potential of spermatozoa. This study investigated the underlying mechanism(s) through which PAF regulated sperm function. Our data demonstrated that PAF dose-dependently induced, whilst lyso-PAF (PAF precursor) showed no effect on acrosome reaction of capacitated human spermatozoa. Treatment with PAF for 90 min enhanced tyrosine phosphorylation and expression of extracellular signal-regulated protein kinases (ERK) 1 and 2 in human spermatozoa. Moreover, pre-treatment with the ERK inhibitor U0126 significantly and dose-dependently suppressed PAF-induced acrosome reaction. Therefore, PAF may be actively involved in the modulation of sperm acrosome reaction by interacting with ERK. The role of PAF in fertilisation warrants further investigation. 相似文献
34.
Mucopolysaccharidosis III in Taiwan: Natural history,clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period 下载免费PDF全文
Hsiang‐Yu Lin Chih‐Kuang Chuang Chung‐Lin Lee Ru‐Yi Tu Yun‐Ting Lo Pao Chin Chiu Dau‐Ming Niu Yi‐Ya Fang Tzu‐Lin Chen Fuu‐Jen Tsai Wuh‐Liang Hwu Shio Jean Lin Tung‐Ming Chang Shuan‐Pei Lin 《American journal of medical genetics. Part A》2018,176(9):1799-1809
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) has a variable age of onset and variable rate of progression. However, information regarding the natural history of this disorder in Asian populations is limited. A retrospective analysis was carried out for 28 patients with MPS III (types IIIA [n = 3], IIIB [n = 23], and IIIC [n = 2]; 15 males and 13 females; median age, 8.2 years; age range, 2.7–26.5 years) seen in six medical centers in Taiwan from January 1996 through October 2017. The median age at confirmed diagnosis was 4.6 years. The most common initial symptom was speech delay (75%), followed by hirsutism (64%) and hyperactivity (54%). Both z scores for height and weight were negatively correlated with age (r = –.693 and ?0.718, respectively; p < .01). The most prevalent clinical manifestations were speech delay (100%) and intellectual disability (100%), followed by hirsutism (93%), hyperactivity (79%), coarse facial features (68%), sleep disorders (61%), and hepatosplenomegaly (61%). Ten patients (36%) had epilepsy, and the median age at the first seizure was 11 years. Thirteen patients (46%) experienced at least one surgical procedure. At the time of the present study, 7 of the 28 patients had passed away at the median age of 13.0 years. Molecular studies showed an allelic heterogeneity without clear genotype and phenotype correlations. MPS IIIB is the most frequent subtype among MPS III in the Taiwanese population. An understanding of the natural history of MPS III may allow early diagnosis and timely management of the disease facilitating better treatment outcomes. 相似文献
35.
Huei‐Ching Chiu Ru‐Yi Tu You‐Hsin Huang Yin‐Hsiu Chien Ni‐Chung Lee Dau‐Ming Niu Mei‐Chyn Chao Fuu‐Jen Tsai Yen‐Yin Chou Chih‐Kuang Chuang Shuan‐Pei Lin 《American journal of medical genetics. Part A》2018,176(6):1309-1314
Prader–Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Children (WeeFIM) was used to evaluate 81 children with PWS (44 boys and 37 girls) with a median age of 11 years 1 month (range 2 years 8 months to 20 years 2 months) were recruited between January 2013 and December 2016. The mean total WeeFIM score was 103.8 (maximum 126). Sixty‐five patients (80%) had deletion type PWS, 16 (20.0%) had nondeletion type. The scores were 103.6 ± 18.5 for deletion and 104.8 ± 18.3 for nondeletion type (p = .405), 104.8 ± 19.3 in boys and 102.6 ± 17.3 in girls (p = .293). The mean self‐care, mobility, and cognition scores were 47 (maximum 56), 33 (maximum 35), and 24 (maximum 35), respectively. All total scores and 18 subscores in the three functional domains were positively correlated with age (p < .05). Most children required assistance in problem‐solving, comprehension, and expression. The WeeFIM identified the strengths and limitations of children with PWS and confirmed that support and supervision were needed in cognitive and self‐care tasks. 相似文献
36.
Chun-Hsiang Chiu Ying-Chuan Wang Kuo-Ming Yeh Jung-Chung Lin L.K. Siu Feng-Yee Chang 《Journal of microbiology, immunology, and infection》2018,51(1):64-69
Background/Purpose
Although the prevalence of pneumonia or other extrapulmonary infections is higher in people with alcoholism or acute alcohol intoxication, the possible relationship of acute alcohol intoxication to phagocytic function has not been investigated. Our aim was to determine whether acute alcohol intoxication suppresses phagocytic function in human neutrophils.Methods
Twenty healthy individuals were enrolled for isolating neutrophils to evaluate the neutrophil phagocytic function at different alcohol concentrations. Klebsiella pneumoniae was isolated from clinical specimens of liver abscesses. The rate of K. pneumonia phagocytosis (K2 and non-K1/K2 isolates) by neutrophils was determined using flow cytometry and compared among the nine groups with different alcohol concentrations.Results
The rate of phagocytic uptake decreased significantly with increasing alcohol concentration in both the K2 and non-K1/K2 K. pneumonia groups (r = ?0.866, p = 0.03 vs. r = ?0.975, p < 0.001). Moreover, the percentage of K. pneumoniae ingested by neutrophils decreased with age.Conclusion
The ability of neutrophils to phagocytose virulent K2 K. pneumoniae was suppressed by ethanol at high concentrations. This finding may account for the higher prevalence of pneumonia or other extrapulmonary infection in people with acute alcohol intoxication. 相似文献37.
Ching-Chia Kuo Yu-Shin Lee Ming-Ru Lin Shao-Hsuan Hsia Chih-Jung Chen Cheng-Hsun Chiu Mao-Sheng Hwang Yhu-Chering Huang 《Journal of microbiology, immunology, and infection》2018,51(2):184-190
Background/Purpose
Kawasaki disease (KD) is a febrile systemic vasculitis, and some patients may develop serious complications requiring intensive care. We aim to ascertain the clinical presentations and outcomes of these patients.Methods
From October 2004 to October 2014, children with KD who had stayed in the pediatric intensive care unit (ICU) for acute stage treatment were defined as case patients; for each case, three age/sex-matched patients with KD but without ICU stay, if identified, were selected as control patients. Clinical data were retrospectively collected and analyzed.Results
Among the total of 1065 KD patients, we identified 26 case patients and 71 controls for statistical analysis. ICU patients had a longer fever duration, and tended to have hemoglobin level < 10 g/dL, platelet count < 150 × 109/L, band cell percentage > 10%, peak serum C-reactive protein level > 200 mg/L, serum albumin value < 3 g/dL, and often presented with multiorgan system involvement. Time from symptom onset to the diagnosis of KD was similar between the two groups, but ICU patients were less likely to have KD as a leading admission diagnosis. Shock (73.1%, n = 19) was the most common reason for ICU admission. ICU patients were more likely to receive antibiotics, albumin infusion, and require a second dose of intravenous immunoglobulin or steroid therapy. No in-hospital mortality was observed.Conclusion
Patients with KD requiring ICU admission are significantly associated with multiorgan involvement, abnormal hematological and biochemistry biomarkers, KD recognition difficulty at the time of admission, and intravenous immunoglobulin-refractory KD. 相似文献38.
Hao-Yuan Lee Tsu-Lan Wu Lin-Hui Su Hsin-Chieh Li Rajendra Prasad Janapatla Chyi-Liang Chen Cheng-Hsun Chiu 《Journal of microbiology, immunology, and infection》2018,51(4):500-509
Background
Invasive pneumococcal disease (IPD) was associated with mortality, but the risk factors associated with mortality remains controversial.Methods
A retrospective cohort study was designed. All patients with IPD from 2011 to 2013 admitted in a medical center were screened and collected for their clinical presentations and laboratory characteristics.Results
Approximately half of the 134 IPD isolates derived from these patients belonged to three major serotypes (19A, 6A and 3), which are included in 13-valent pneumococcal conjugate vaccine (PCV13), but not in 7-valent pneumococcal conjugate vaccine (PCV7). Ceftriaxone resistance according to non-meningitis criteria was identified in 38% of the IPD isolates, and was the major independent risk factor associated with inappropriate initial therapy that subsequently contributed to mortality of the patients. Infection by serotype 6A, 15B, 19A, 19F, or 23F was the major independent risk factor associated with ceftriaxone resistance (non-meningitis criteria). 77.6% of these isolates belonged to additional PCV13 serotypes, with more than 40% expressing resistance to ceftriaxone. In terms of serotype coverage, PCV13 covered 94.1% of the IPD isolates with ceftriaxone resistance, in comparison to 21.6% only by PCV7.Conclusions
The increase of ceftriaxone resistance in pneumococci in part driven by PCV7 vaccination in Taiwan is worrisome. The use of PCV13 in children as well as in the elderly population is likely to offer protection from the infection caused by ceftriaxone-resistant pneumococci. It is important to give an effective drug such as penicillin, fluoroquinolones or vancomycin in 2 days for improving outcome of IPD patients. 相似文献39.
DSP30 and interleukin‐2 as a mitotic stimulant in B‐cell disorders including those with a low disease burden 下载免费PDF全文
Karen A. Dun Louise A. Riley Giuseppe Diano Leanne B. Adams Eleanor Chiu Archna Sharma 《Genes, chromosomes & cancer》2018,57(5):260-267
Chromosome abnormalities detected during cytogenetic investigations for B‐cell malignancy offer prognostic information that can have wide ranging clinical impacts on patients. These impacts may include monitoring frequency, treatment type, and disease staging level. The use of the synthetic oligonucleotide DSP30 combined with interleukin 2 (IL2) has been described as an effective mitotic stimulant in B‐cell disorders, not only in chronic lymphocytic leukemia (CLL) but also in a range of other B‐cell malignancies. Here, we describe the comparison of two B‐cell mitogens, lipopolysaccharide (LPS), and DSP30 combined with IL2 as mitogens in a range of common B‐cell disorders excluding CLL. The results showed that DSP30/IL2 was an effective mitogen in mature B‐cell disorders, revealing abnormal cytogenetic results in a range of B‐cell malignancies. The abnormality rate increased when compared to the use of LPS to 64% (DSP30/IL2) from 14% (LPS). In a number of cases the disease burden was proportionally very low, less than 10% of white cells. In 37% of these cases, the DSP30 culture revealed abnormal results. Importantly, we also obtained abnormal conventional cytogenetics results in 3 bone marrow cases in which immunophenotyping showed an absence of an abnormal B‐cell clone. In these cases, the cytogenetics results correlated with the provisional diagnosis and altered their staging level. The use of DSP30 and IL2 is recommended for use in many B‐cell malignancies as an effective mitogen and their use has been shown to enable successful culture of the malignant clone, even at very low levels of disease. 相似文献
40.
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion 下载免费PDF全文
A.T.G. Chiu S.L.C. Pei C.C.Y. Mak G.K.C. Leung M.H.C. Yu S.L. Lee M. Vreeburg R. Pfundt I. van der Burgt T. Kleefstra T.M.‐T. Frederic S. Nambot L. Faivre A.‐L. Bruel M. Rossi B. Isidor S. Küry B. Cogne T. Besnard M. Willems M.R.F. Reijnders B.H.Y. Chung 《Clinical genetics》2018,93(4):880-890
Okur‐Chung syndrome is a neurodevelopmental condition attributed to germline CSNK2A1 pathogenic missense variants. We present 8 unreported subjects with the above syndrome, who have recognizable dysmorphism, varying degrees of developmental delay and multisystem involvement. Together with 6 previously reported cases, we present a case series of 7 female and 7 male subjects, highlighting the recognizable facial features of the syndrome (microcephaly, hypertelorism, epicanthic fold, ptosis, arched eyebrows, low set ears, ear fold abnormality, broad nasal bridge and round face) as well as frequently occurring clinical features including neurodevelopmental delay (93%), gastrointestinal (57%), musculoskeletal (57%) and immunological (43%) abnormalities. The variants reported in this study are evolutionary conserved and absent in the normal population. We observed that the CSNK2A1 gene is relatively intolerant to missense genetic changes, and most variants are within the protein kinase domain. All except 1 variant reported in this cohort are spatially located on the binding pocket of the holoenzyme. We further provide key recommendations on the management of Okur‐Chung syndrome. To conclude, this is the second case series on Okur‐Chung syndrome, and an in‐depth review of the phenotypic features and genomic findings of the condition with suggestions on clinical management. 相似文献