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991.
TOSHIYUKI YAMAMOTO TATSUYA KOEDA AKIKO TAMURA HIROSHI SAWADA IKUO NAGATA NAOKI NAGATA TAKASHI ITO YASUYUKI MIO 《Pediatrics international》1996,38(6):689-691
A female infant with 21 trisomy syndrome associated with congenital chylothorax was reported. She was born at a gestational age of 34 weeks by Cesarean section because of fetal hydrothorax and hydrops fetus, confirmed by ultrasonography at 32 weeks. Emergent resuscitation and immediate thoracentesis were performed soon after birth. After beginning breast feeding, the serous pleural fluid became opalescent and a diagnosis of congenital chylothorax was made. Feeding was changed to medium-chain triglyceride (MCT) feeding and the production of pleural effusion disappeared after thoracentesis was performed several times. Accumulating evidence suggested that MCT feeding and intermittent thoracentesis under echo guide were effective. Some reports on patients, including this one, suggest that there may be more patients with 21 trisomy associated with congenital hydrothorax. Therefore, congenital hydrothorax might be listed as a complication of 21 trisomy. 相似文献
992.
Pedro Zubizarreta Federico Sackmann Muriel María Anglica Fernndez Barbieri 《Pediatric blood & cancer》1995,25(1):60-64
Transient myeloproliferative disorder (TMD) is an uncommon syndrome strongly associated with abnormalities of chromosome 21. Blast transient proliferation appears most frequently at neonatal age and usually resolves spontaneously in two or three months. Two patients, a girl and a boy, with neonatal onset of TMD are reported. They both presented trisomy 21 mosaicism according to bone marrow cytogenetic analysis. Patient 1, on one end of the spectrum, showed a “classic” benign course with rapid resolution and favorable outcome. Patient 2, on the other hand, had two blast outbursts both followed by spontaneous remissions. He failed to thrive and never reached a good general condition, dying at 5 months of age from a respiratory infectious complication. The necropsy showed generalized extramedullary hemopoiesis without evidence of bone marrow blast infiltration or myelofibrosis. TMD has some clinical and laboratory features that make it unique and distinguishable from true congenital leukemia with which it may be initially mistaken. It usually has a benign course followed by a favorable outcome. As trisomy 21 mosaicism may not have overt phenotypic stigmata, it is possible that many cases of TMD in these children may have a silent, non-detected course. We also conclude that a favorable outcome is not always to be expected in TMD. © 1995 Wiley-Liss, Inc. 相似文献
993.
ABSTRACT Treatment of mouse preimplantation embryos with adriamycin (ADM), methyl methanesulfonate (MMS) and all -trans retinoic acid (RA) on their later development including implantation, growth and organogenesis were investigated. ICR mice were treated intraperitoneally with ADM or MMS on day 3 of gestation, or with RA on day 4 of gestation. The uterine contents were examined on day 18 of gestation. The viable fetuses were inspected for external and skeletal malformations. Irrespective of the kind of chemical agents tested, frequencies of total malformed fetuses were significantly increased, whereas the frequencies were considerably lower than those of malformations in fetuses of dams treated with ADM, MMS or RA during the period of organogenesis. In the fetuses of ADM-treated mice, the most common abnormality was umbilical hernia, followed by cleft palate. In the MMS-treated fetuses, the most common abnormality was cleft palate. Among the malformations observed in this study, duplication of hindlimb (5/193 fetuses) induced by the treatment with RA at the preimplantation stage was a quite unique abnormality. This type of malformation has never before been found in our historical control embryos and in embryos treated with various kind of teratogens. Based on these results and other data, it is concluded that embryos at the preimplantation stage are susceptible to environmental chemical-induced congenital malformations. 相似文献
994.
高海拔地区围产儿死亡中出生缺陷的顺位分析 总被引:1,自引:0,他引:1
通过我院1988年1月~1993年12月围产儿死亡中出生缺陷的临床病理分析及顺位,探讨高海拔地区(西宁海拔2260m)围产儿死亡中的出生缺陷的特点,本组围产儿死亡率20‰,共103例,其中发现有出生缺陷者27例,主要为严重的心血管畸形,多数伴有多发畸形,其次为神经系统开放性畸形,消化系统畸形等,分析提示,出生缺陷以心血管畸形为主,明显不同平原地区,可能与高海拔寒冷,病毒感染频繁,缺氧等因素有关。 相似文献
995.
Summary In the present study right heart catheterization and impedance rheopneumogram examinations were performed simultaneously on
21 patients suffering from congenital cardiovascular diseases with atrial or ventricular septal defect accompanied by the
left to right shunt (CCD) and 17 patients suffering from rheumatic valvular disease with mitral stenosis (MS) in order to
investigate the differences in the impedance rheopneumogram parameters between CCD patients and patients with chronic obstructive
pulmonary disease (COPD) as well as between MS and COPD patients. The results showed that when patients with different diseases
had the same level of pulmonary arterial pressure, CCD patients had significantly higher Hs than COPD patients, while MS patients
had significantly higher Hd/Hs ratio than COPD patients and CCD patients. The linear regressional equation between Hd/Hs ratio
and pulmonary capillary wedge pressure (PCWP) was as follows: PCWP(kPa) = 0.17+0.98 × Hd/Hs (n = 155,Y = 0.422,P< 0.001). These results suggest that, (1) impedance rheopneumographic regressional equations with Hs as one of the major variables
suitable for predicting secondary pulmonary hypertension in COPD patients are not suitable for use on CCD patients, (2) Hd/Hs
ratio is useful in clinical work as an index for differential diagnosis between MS and Cor Pulmonale, and (3) PCWP can be
roughly and noninvasively measured based on the measurement of impedance rheopneumogram parameter Hd/Hs. 相似文献
996.
Osvaldo Uchitel Andrew G. Engel Timothy J. Walls Alexandre Nagel M. Zouhair Atassi Vera Bril 《Muscle & nerve》1993,16(12):1293-1301
A 21-year-old woman had myasthenic symptoms since birth that responded poorly to anticholinesterase therapy. Tests for acetylcholine receptor (AChR) antibodies were negative. An intercostal muscle specimen was obtained to investigate the character of the neuromuscular transmission defect. There were no immune deposits at the endplates. The quantal content of the endplate potential was normal. Miniature endplate potentials and currents were very small, but the number of AChR per endplate was normal. On electron microscopy, the synaptic vesicles were of normal size, the junctional folds were intact, and the density and distribution of AChR on the folds was normal. The kinetic properties of AChR were studied by analysis of acetylcholine (ACh)-induced current noise. The mean single channel conductance was normal. The noise power spectrum was abnormal, containing two components of different time course. This could result from an abnormal interaction of ACh with AChR, or from two populations of AChR at the endplate. The second possibility is unlikely because if two populations of AChR were present at the endplate, then both would have to have low conductance to explain the small miniature endplate current, but the average conductance of the channels that did open was normal. © 1993 John Wiley & Sons, Inc. 相似文献
997.
Theodore A. Xenakis MD Ioannis D. Gelalis MD Theodosios D. Koukoubis MD Panayotis N. Soucacos MD FACS Kostas Vartziotis PhD Dimitrios Kontoyiannis MD Christos Tatsis MD 《The Journal of arthroplasty》1996,11(8):893-898
Computed tomography (CT) provides important three-dimensional anatomic details in congenital dislocation of the hip that are useful for total hip arthroplasty (THR) and are not obtainable with conventional radiographic evaluation. In this study, 84 patients (119 hips) with congenital dislocation of the hip were evaluated with CT before surgery. Specifically, both the acetabulum and the femur were analyzed to make the best selection of the prosthesis. The average anteversion of the acetabulum was 23°, with an opening of 30.9 mm and a depth of 14.7 mm. The bone stock of the true acetabulum was calculated and the average available diameter for the acetabular implant was 44.9 mm. The CT topogram revealed the true leg-length discrepancy (average, 0.5–1.9 cm), and the amount of a shortening osteotomy when necessary was determined. Finally, to determine the stem with optimum fit and fill, a three-dimensional reconstruction of the femoral canal using CT data and computer-aided design (CAD) was matched with a three-dimensional geometry of several stem designs and sizes obtained from a CAD system. 相似文献
998.
ABSTRACT
Vejvoda, M. and Grant, D. B. (The Hospital for Sick Children, London WCIN 3JH, England). Discordant bone maturation of the hand in children with precocious puberty and congenital adrenal hyperplasia. Acta Paediatr Scand, 70: 903, 1981.-Difference between the bone maturation scores for the tubal and carpal bones of the hand and wrist were assessed by the method of Tanner et al. on X-rays from 10 children with precocious puberty and 10 children with late-diagnosed congenital adrenal hyperplasia, and compared with results in 20 normal children. Scores for the tubular bones were significantly more advanced than those for the carpal bones in both groups of patients, emphasizing the need for caution when using standards derived from normal children to assess bone age in children with markedly accelerated bone maturation. 相似文献
Vejvoda, M. and Grant, D. B. (The Hospital for Sick Children, London WCIN 3JH, England). Discordant bone maturation of the hand in children with precocious puberty and congenital adrenal hyperplasia. Acta Paediatr Scand, 70: 903, 1981.-Difference between the bone maturation scores for the tubal and carpal bones of the hand and wrist were assessed by the method of Tanner et al. on X-rays from 10 children with precocious puberty and 10 children with late-diagnosed congenital adrenal hyperplasia, and compared with results in 20 normal children. Scores for the tubular bones were significantly more advanced than those for the carpal bones in both groups of patients, emphasizing the need for caution when using standards derived from normal children to assess bone age in children with markedly accelerated bone maturation. 相似文献
999.
I.M. HELLEMANS N.M. van HEMEL C.A. KOOYMAN 《Pacing and clinical electrophysiology : PACE》1981,4(2):216-220
The case of a girl who was first seen at 3.5 years of age with longstanding asymptomatic heart block is reported. Electrophysiological study disclosed a block proximal to the His bundle. She grew up normally until the age of 11.5 years, when a syncopal attack occurred. Before a pacemaker could be inserted, she suffered a second fatal attack. Necropsy revealed a tumor of the atrioventricular node diagnosed as mesothelioma. Our findings are compared to the 38 cases already described in the literature. 相似文献
1000.
R. Michael McCormac David B. Flannery Irene Imakoneczna Michael B. Kodroff 《Fetal and pediatric pathology》1984,2(4):457-467
The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes. 相似文献