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51.
Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy 总被引:1,自引:0,他引:1
Susanna Freude H Frisch Daniela Wimberger Edith Schober Gabriele Häusler F Waldhauser F Aichner 《Acta paediatrica (Oslo, Norway : 1992)》1992,81(8):641-645
We report four patients (three male, one female) with septo-optic dysplasia and growth hormone deficiency. All had GH therapy for a period of four to eight years until reaching final height. In all four cases bone maturation during puberty was accelerated (1.4 to 1.9 "years"/year), resulting in a final height which was clearly below the predicted height. The progress of pubertal stages was very short in all patients. In three patients TSH and prolactin release after TRH stimulation were increased. These data support a hypothalamic original of the endocrine disorder. Insufficient GH release, even after repeated GHRH stimulation, is in contrast to this assumption. In one case there was a late manifestation of neurohormonal diabetes insipidus, which indicates the possibility of later disease progression. MR imaging of the brain demonstrated variable malformation of the septum pellucidum, chiasma and nervus opticus or the pituitary gland, respectively. 相似文献
52.
Summary Prospective study of CT and MRI in 41 consecutive children with suspected type 1 neurofibromatosis revealed basal ganglion lesions on T2-weighted spin echo images in 22 cases (54%) and on CT in only 7 of those (32%). T2-weighted spin-echo MRI also revealed multiple signal changes in the supra- and infratentorial white matter and brain stem that went completely unnoticed on CT. 相似文献
53.
Summary Agenesis of the cerebellar vermis with fusion of the dentate nuclei and cerebellar hemispheres (rhombencephalosynapsis) is a rare cerebral malformation. We report the case of a 7-h-old girl whose mother had taken the drug phencyclidine during the first 6 weeks of pregnancy. Absence of the septum pellucidum, hypoplasia of the commissural system, optic nerves, chiasm and tracts, moderate hydrocephalus, and agenesis of the posterior lobe of the pituitary were also found. Extracranial congenital anomalies involved the cardiovascular, respiratory, urinary, and musculoskeletal systems. Death was secondary to severe respiratory distress and bradycardia. The literature concerning this rare form of cerebellar malformation is reviewed. 相似文献
54.
[目的]探讨胃黏膜良恶性病变幽门螺杆菌(Hp)感染与突变型p53、bcl-2、增殖细胞核抗原(PCNA)表达之间的关系。[方法]用免疫组织化学SP法对115例胃黏膜良、恶性病变[慢性浅表性胃炎(CSG)25例,慢性萎缩性胃炎(CAG)25例,异型增生(GED)25例,胃癌(GCA)40例]的胃镜活检标本进行幽门螺杆菌感染的检测和突变型p53、bcl-2、PCNA表达的研究。[结果]在CSG、CAG、GED、GCA的各病变中幽门螺杆菌感染检出率分别为36%(9/25)、48%(12/25)、72%(18/25)、58%(23/40);与20例正常胃黏膜Hp检测阳性率(20%)作比较,除了CSG无统计学意义外,其余几组均有显著性差异(P<0.05);突变型p53检出率分别为0、0、24%(6/25)、55%(22/40);胃炎、异型增生、胃癌三者之比有显著性差异(P<0.05);bcl-2检出率44%(11/25)、52%(13/25)、76%(19/25)、57.5%(23/40);PCNA在CSG、CAG、GED、GCA中的表达呈现递增性,经Ridit检验P<0.05;Hp感染与PCNA表达强级(阳性细胞>50%)、p53阳性病例均有显著相关性(P<0.01)。[结论]Hp的感染与突变型p53、bcl-2、PCNA在胃黏膜异型增生,胃 相似文献
55.
B. M. Ure A. M. Holschneider D. Schulten W. Meier-Ruge 《Pediatric surgery international》1997,12(5-6):377-382
A prospective study of 141 consecutive patients with intestinal neuronal malformations is presented. The single malformation of the autonomic nervous system that always required surgical intervention was aganglionosis. Giant ganglia, reduced parasympathetic tone, immature ganglia, and hypogenetic or heterotopic nerve cells were seen in all forms of malformations. However, the incidence in specific malformations was variable. Multiple giant ganglia were identified in all patients with intestinal neuronal dysplasia (IND) type B, but also in various other malformations. Heterotopic nerve cells in the myenteric plexus were seen in the proximal segment of 15 of 74 patients (20.3%) with aganglionosis and 5 of 9 patients (55.6%) with hypoganglionosis. A significant impact on symptoms was found for IND type B: 34 (45.9%) of 74 children with aganglionosis had associated IND type B, and these children more frequently developed ileus (P < 0.001) and more often needed a second resection (P < 0.05) compared to those with isolated aganglionosis. This indicates an additive effect of both malformations, and therefore, in these patients an extended resection should be carried out.Twelve of 67 patients (17.9%) without aganglionosis needed resection for untreatable constipation. This included 7 of 9 children with hypoganglionosis, both patients with heterotopia of the myenteric plexus, 1 of 20 with isolated IND type B, and 2 of 12 with reduced parasympathetic tone. None of the patients with immaturity, heterotopia of the submucous plexus, or mild dysganglionosis required surgery. Six children (8.9%) without aganglionosis underwent sphincteromyotomy and 2 with IND type B had a temporary colostomy. At follow-up (mean 2.4 ± 1.4 years), the outcome in patients with resected aganglionosis was better than in patients who had resections for other malformations; 49 (69%) of 71 patients with aganglionosis were asymptomatic compared to 4 (33.3%) of 12 with other malformations (P < 0.05). It is concluded that some intestinal malformations have a relevant clinical impact. However, the severity of symptoms in the individual patient may not be explained by specific histochemical findings from a limited number of mucosal biopsies. The pathognomonic histochemical criteria of isolated IND typeB — immaturity, reduced parasympathetic tone, heterotopia of the submucous plexus, and mild dysganglionosis —rarely require surgical therapy and should be treated conservatively. 相似文献
56.
Lung autopsies from four neonates with Ebstein's anomaly or tricuspid valve dysplasia and gross cardiomegaly were examined.
The mean cardiothoracic ratio was 92 ± 0.5%. The degrees of pulmonary hypoplasia and pulmonary artery muscularization were
assessed and were compared with those in lungs from four controls and four patients with diaphragmatic hernias. Lung and body
weight ratios and radial alveolar counts, which reflect pulmonary hypoplasia and immaturity, were significantly decreased
only in patients with diaphragmatic hernia. The thickness of the medial muscle layer in small pulmonary arteries was greater
in patients with diaphragmatic hernia; however, in patients with tricuspid valve disease, it was relatively small. Abnormal
vascular muscle extension was seen only in patients with diaphragmatic hernia. In the cases of tricuspid valve disease, although
cardiomegaly and lung compression were severe, lung hypoplasia and immaturity were not, and neither abnormal medial thickening
nor extension were found. Our results suggest that, at least in full-term infants with tricuspid valve disease, surgical relief
of lung compression may improve respiratory function, even if the cardiomegaly is severe. 相似文献
57.
P. Morales A. Rastogi M.L. Bez S.M. Akintorin S. Pyati S.M. Andes R.S. Pildes 《Pediatric cardiology》1998,19(3):225-229
Patent ductus arteriosus (PDA) is believed to be a contributing factor in the etiopathogenesis of bronchopulmonary dysplasia
(BPD). We studied the effects of early dexamethasone therapy on persistent ductal patency and the role of PDA in the etiopathogenesis
of BPD during the course of a randomized double-blind trial of dexamethasone to prevent BPD. Infants, who weighed between
700 and 999 g, had severe RDS, and had been given surfactant, were randomized to receive a 12-day course of dexamethasone
(n= 13) or placebo (n= 17) starting within the first 12 hours of postnatal life. The diagnosis of PDA was made clinically and was confirmed by
cardiac ultrasound. The incidence of clinically significant ductus in infants who weighed less than 1000 g was 23% in the
dexamethasone-treated group, as compared with 59% in infants who were given placebo. This difference was marginally significant,
p= 0.05, odds ratio 0.21, 95% confidence interval 0.04–1.05. None of the infants in the dexamethasone group had recurrence
of PDA after indomethacin therapy as compared with three infants in the placebo group. Dexamethasone significantly reduced
the number of days infants required ventilator and supplemental oxygen as compared with infants who received placebo. Dexamethasone,
as compared with placebo, also reduced the incidence of BPD, p= 0.025, odds ratio 0.08, 95% confidence interval 0.01–0.58. Dexamethasone may reduce the incidence of PDA in premature infants
who weigh less than 1000 g at birth and thereby reduce the incidence of BPD. 相似文献
58.
本文用计算机图像分析仪对73例食管鳞状上皮非典型增生的细胞核进行形态计量测量,检测了胞核面积、周长、形态因子、异形指数、园球等5个指标,并与正常组相对照,结果表明,传统的组织学分级与形态定量分级基本一致,有其客观性。同时发现组织学诊断与形态计量诊断间有一些病例交叉,即下级病变的测量指标高于上级病变均值或上级病变的测量指标低于下级病变均值的情况。如果具体到某一病人,多指标形态定量可能比组织学诊断更准确,更能代表病变的现状。本文从食管鳞癌发生学的角度,对组织学诊断、细胞学诊断及形态定量诊断相互之间的关系及意义作了深入的分析,认为对食管非典型增生细胞核进行多指标形态分析,可为临床诊疗及估计预后提供帮助。 相似文献
59.
Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of
the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long
tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight
widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise
normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes
typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine.
This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia,
type Jansen.
Received: 4 April 1999 Revision requested: 6 April 1999 Revision received: 29 November 1999 Accepted: 1 December 1999 相似文献
60.
We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because
of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because
of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual.
Received: 22 June 2000 Revision requested: 10 July 2000 Revision received: 7 August 2000 Accepted: 10 August 2000 相似文献