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31.
Niveditha Girimaji Sakthivel Murugan SM Ritambhra Nada Ashish Sharma Manish Rathi Harbir S. Kohli Krishna L. Gupta Raja Ramachandran 《Nephrology (Carlton, Vic.)》2020,25(6):497-501
Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular anomalies. Ten percentage to 15% of the patients with AS have autosomal recessive (ARAS) due to mutation in either COL4A3 or COL4A4 gene. We report a novel mutation in the COL4A3 gene in an Indian family with ARAS. The above‐mentioned genetic anomaly was a missense variation in exon 26 of the COL4A3 gene (chr2:228137797G>A; c.1891G>A) that resulted in the amino acid substitution of Arginine for Glycine at codon 631 (p.Gly631Arg) that was present in the heterozygous state in the asymptomatic parents and homozygous state in the male offspring who presented with early‐onset end‐stage renal disease, lenticonus and hearing loss. The patient (male offspring) underwent successful renal transplantation with his mother as a donor. 相似文献
32.
Raja Ramachandran Neeraj Inamdar Joyita Bharati Ashok K Yadav Ashwani Kumar Gaurav Prakash Ritambhra Nada Manish Rathi Harbir Singh Kohli Krishan L Gupta Vivekanand Jha 《Nephrology (Carlton, Vic.)》2018,23(8):791-796
The literature on membranous nephropathy (MN) with monoclonal deposits on immunofluorescence (IF) and their outcome is very scarce. We report our experience of managing five patients with this clinical entity. The mean age of the patients was 33.2 ± 6.55 years. The mean proteinuria, serum albumin and serum creatinine was 5.73 ± 2.17 g/day, 2.86 ± 0.51 g/dL and 1.34 ± 1.19 mg/dL, respectively. None of the patients had a lymphoproliferative disorder. Only one patient had an elevated free light chain ratio. Four (80%) patients were M‐type phospholipase A2 receptor (PLA2R) negative (tissue and serum), and one (20%) was PLA2R related. Three (60%) cases had monoclonal IgG3/k, one IgG3/λ, whereas one patient with PLA2R positivity had an IgG3/IgG4k subtype. Two (67%) patients treated with cyclical cyclophosphamide and steroids (cCYC/GC) achieved complete remission and one patient (33%) with elevated baseline creatinine had a reduction in serum creatinine with persistent proteinuria at the end of the 12th month of follow‐up. One patient with PLA2R positive MN was treated with Rituximab and is in complete remission. The patient with an elevated free light chain at baseline was treated with Bortezomib/Thalidomide/Dexamethasone, had complete remission at 12 months, however, had a progressive rise in creatinine over the next 40 months of follow‐up. The current series, though limited by numbers, documents the efficacy of conventional therapies in non‐malignant associated MN with monoclonal deposits on IF. 相似文献
33.
K. P. Kushwaha Y. D. Singh A. K. Rathi K. P. Singh C. K. Rastogi 《Indian journal of pediatrics》1992,59(2):261-268
The present study has been carried out in the slum areas of Gorakhpur city, covering a population of 10,187 in the four colleges
of Gorakhpur. Five hundred and eighty children and adolescents in urban slums, and 750 college students between 10–18 years
were studied by means of a questionnaire card for detection of prevalence rate and various others co-relates of abuse of psychoactive
substances.
Overall, prevalence of abuse of psychoactive substances was 25% in slum areas, and 18% in college students. Abuse of tobacco
was most frequent (50.3% & 72.5%) followed by that of alcohol (11.7% & 16.2%) in both the groups respectively. Cannabis was
also used by some children (0.6%). More abusers were from Hindu families with low educational status and low family income.
Surprisingly no one was found to be abusing tablets and street drugs. 相似文献
34.
Rathi SK 《Indian journal of dermatology, venereology and leprology》2002,68(3):155-156
Papillon-Lefevre syndrome is a disorder of keratinization transmitted probably in an autosomal recessive fashion. Two brothers aged 7 and 4 1/2 years, of this syndrome is reported. Both had palmo-plantar keratoderma, early loss of teeth along with involvement of knees and elbows. There was no history of consanguinity between parents. 相似文献
35.
Biochemical aspects of intravenous alimentation 总被引:1,自引:0,他引:1
36.
37.
Aberrant methylation of TMS1 in small cell,non small cell lung cancer and breast cancer 总被引:10,自引:0,他引:10
38.
Kalra V Grover JK Ahuja GK Rathi S Gulati S Kalra N 《Journal of tropical pediatrics》2001,47(1):39-45
Neurological signs including posterior column, spinocerebellar, retinal, and peripheral nerve deficits are being increasingly recognized in vitamin E deficiency states. Children suffering from protein-energy malnutrition (PEM) revealed significantly reduced serum alpha-tocopherol levels compared to age-matched normal children, the deficient subjects also exhibited the widely recognized signs of tocopherol deficiency. In this prospective therapeutic intervention study moderate PEM subjects were administered aqueous oral vitamin E supplementation for 6 weeks and compared with control PEM subjects. The parameters studied included pre- and post-therapy serum alpha-tocopherol levels, alpha-tocopherol lipid ratio, lipid profile, creatine phosphokinase levels, and electroneurophysiological studies. Vitamin E supplementation normalized serum alpha-tocopherol levels (p < 0.001), alpha-tocopherol lipid ratio (p < 0.001), reduced creatine phosphokinase levels (p < 0.01), and reduced neurological signs in PEM subjects (p < 0.001). The observed improvement in neurological dysfunction among PEM subjects is of great interest, especially in developing countries. While larger studies are recommended, the importance of vitamin E administration in PEM is being reported. 相似文献
39.
OBJECTIVE: To report the experience in one centre of the efficacy and safety of retroperitoneal laparoscopic procedures (RLPs). PATIENTS AND METHODS: During 1991-2000, 351 RLPs using the balloon technique were undertaken in 340 patients (mean age 34.9 years, range 4-74); the details and outcome were reviewed. Initial access was by the mini-open digital dissection technique in 152 and by the closed percutaneous technique in the remaining 199 procedures. Patients had not undergone previous retroperitoneal procedures, except for nine who had a percutaneous nephrostomy and eight ipsilateral abdominal surgery. There were 172 renal, seven adrenal, 97 ureteric, 50 gonadal, 13 lymphatic system, three vesical, two autonomic nervous system and seven vertebral RLPs. Nitrous oxide was used for pneumo-insufflation in 103 procedures, instead of CO2. RESULTS: The RLP was successful in 318 of the 351 procedures (90.6%). The operative duration was 0.5-5.5 h, depending on the difficulty of the procedure and the presence or absence of adhesions. The overall incidence of complications was 12.9%, but decreased to 9% for the last 100 procedures. There were only five major complications, e.g. avulsion of the ureter, torn renal pelvis, colonic injury and severe hypotension, but none were related to balloon dissection. The mean blood loss was 37.7 mL and the reason for transfusion in three patients was not operative blood loss but displacement of the ligature in two and severe hypotension after removing a phaeochromocytoma in one. The mean duration of analgesic use was 2.5 days, the hospital stay 3 days and return to work 14 days. CONCLUSION: Retroperitoneal laparoscopy using the balloon technique is a reasonably safe, efficient and reliable minimally invasive procedure. The efficiency, efficacy and safety of RLPs depend more on experience than on the type of access technique, type of balloon or medium used to inflate the balloon. Balloon rupture causes no tissue damage, and expansion to approximately 800 mL in adults is safe if the retroperitoneal space has not previously been invaded. The use of nitrous oxide for pneumo-insufflation in the retroperitoneal space is safe if proper precautions are taken. 相似文献
40.
Spectroscopy is close to becoming an integral part of the clinical MR examination to achieve a complete morphological, functional, and metabolic evaluation of the human heart. 31P-NMR spectroscopy is used to noninvasively assess human myocardial energy metabolism. Abnormalities in the phosphocreatine (PCr) to ATP ratio are observed in ischemic heart disease, heart failure, transplanted hearts, and hypertrophic cardiomyopathy. NMR spectroscopy 31P spectra obtained at rest, during exercise or pharmacological stress allow the observation of the earliest metabolic responses of myocardial ischemia. 1 spectroscopy can evaluate the concentration of intracellular creatine and myocardial lipids as a means of evaluating myocardial viability. The increase in total 23Na in ischemic tissue provides information about the extent and location of viable tissue. Higher magnetic fields, gradient strength, and technological advances in pulse sequence and localization will result in better spatial and temporal resolution improving the clinical utility of the technique. 相似文献