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111.
目的:探讨脊髓动静脉畸形的MRI表现及鉴别诊断要点。方法回顾性分析我院12例脊髓动静脉畸形患者的临床和MRI资料,并总结其MRI表现。结果12例患者病变均位于胸段。8例MRI表现为脊髓背侧或/和腹侧蛛网膜下隙内可见串珠状、蚯蚓状扭曲血管流空影,髓内见广泛的异常信号,T1WI呈等或稍低信号,T2WI呈高信号;3例脊髓内见范围长度不等的迂曲状畸形血管样流空影,增粗的血管呈蚯蚓状、蜂窝状,脊髓伴有空洞或囊状扩张等改变;1例脊髓内及脊髓背侧或/和腹侧蛛网膜下隙内可见迂曲状畸形血管流空影,髓内可见较广泛水肿。其中2例经DSA证实为脊髓动静脉畸形,行DSA栓塞术后好转。结论脊髓动静脉畸形MRI表现有一定特征性,MRI对诊断脊髓动静脉畸形具有较大价值。 相似文献
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Kirill Marakhouski Elena Sharafanovich Uladzislau Kolbik Aleh Sautin Katsiaryna Nikalayeva Aleh Pataleta Kiryl Sanfirau Aliaksandr Svirsky 《World journal of gastrointestinal endoscopy》2021,13(3):90-96
BACKGROUNDBlue rubber bleb nevus syndrome (BRBNS) is a rare vascular disease, difficult to diagnose and choose a treatment method, especially in young children. There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients, in general. The literature on BRBNS cases is limited and presents various therapeutic approaches.CASE SUMMARYWe present here a case of BRBNS involving a 4-year-old female, whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam. Skin lesions, typical for BRBNS, appeared on the 8th d of the child’s life and their number increased over the next several months. The child also experienced episodes of critical decrease in hemoglobin level (by as much as 52 g/L) for several years, requiring iron supplementation and several blood transfusions. Video capsule endoscopy revealed numerous vascular formations in the small bowel. The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis. Single-balloon enteroscopy was used to perform sclerotherapy, with aethoxysklerol foam. A positive effect was observed within 19 mo of follow-up. We continue to monitor the patient’s hemoglobin level, every 2 wk, and it has remained satisfactory (> 120 g/L).CONCLUSIONEndoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children. 相似文献
113.
Carneiro FP de Nazareth Sobreira M de Azevedo AE Alves AP Campos KM 《World journal of gastroenterology : WJG》2008,14(6):966-968
Duplications of the alimentary tract are uncommon congenital malformations that can present diagnostic difficulties. We report a rare case of a cystic colonic duplication in a female adult. Preoperative investigations were suggestive of pancreatic tumor. The diagnosis was established based on the histopathological examination of the resected specimen. We concluded that, though uncommon, intestinal duplication should be considered in differential diagnosis of abdominal mass. 相似文献
114.
Introduction
Carotid cavernous sinus fistulas are a potentially severe pathology. Their basic standard treatment is an occlusion of the CCF performed by retrograde venous catheterization via the inferior petrous sinus. When the inferior petrous sinuses are occluded, other alternative venous routes are possible with various subsequent difficulties and risks. We report an original and safe method for endovascular treatment using submandibular puncture of the facial vein.Clinical cases
We report 4 cases of patients with severe unilateral carotid cavernous sinus fistula associated with the occlusion of both inferior petrous sinuses. A submandibular surgical puncture of the ipsilateral inferior facial vein permitted the catheterization of the fistula. Complete occlusion of carotid cavernous sinus fistula was obtained by using a combination of microcoils and Onyx™.Discussion
When inferior petrous sinuses are occluded, endovascular treatment of carotid cavernous sinus fistulas is more difficult. After reviewing the other treatment options reported in the literature and their respective advantages and adverse effects, we describe an original technique based on the surgical puncture of the ipsilateral facial vein. The occlusion of the fistula is then obtained by using a combination of microcoils and Onyx™.Conclusion
When the inferior petrous sinuses are occluded, an endovascular treatment for a carotid cavernous sinus fistula can be performed using an original and secure method. This method relies on a simple surgical puncture of the facial vein in the submandibular region, which then permits a retrograde catheterization of the carotid cavernous sinus fistula with no significant risk. 相似文献115.
Michal M. Andelman‐Gur Richard J Leventer Mohammad Hujirat Christos Ganos Keren Yosovich Nirit Carmi Dorit Lev Andreea Nissenkorn William B. Dobyns Kailash Bhatia Tally Lerman‐Sagie Lubov Blumkin 《American journal of medical genetics. Part A》2020,182(10):2207-2213
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder. 相似文献
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Bengt Klln Pierpaolo Mastroiacovo Elisabeth Robert 《American journal of medical genetics. Part A》1996,65(2):160-166
We studied major malformations in 5,581 infants with Down syndrome (DS) from three registers of congenital malformations. The prevalence at birth of 23 different malformations was compared with the program-specific rates for each malformation in non-DS infants. An about 300 times risk increase was seen for annular pancreas, cataracts and duodenal atresia and an about 100 times risk increase for megacolon and choanal atresia. Esophageal, anal and small bowel atresia, preaxial polydactyly, and omphalocele all showed risk increases between 10 and 30 times. Statistically significantly elevated risk ratios around 3–5 were seen for cleft palate, cleft lip/palate, and limb deficiencies. No increased risk was seen for neural tube defects, hydrocephaly, microtia, renal agenesis or severe dysgenesis, hypospadias or polydactyly other than preaxial. Oral clefts were more often present in DS in the Swedish material than in the other two materials. Cardiac defects were registered in 26% of all cases (varying between programs) but 28% of the cardiac defects were unspecified. DS infants born to women younger than 25 years had a significantly increased risk for megacolon and there was a trend of increasing risk for esophageal or anal atresia with maternal age. A decreased risk for cardiac defect in DS infants born to teenage mothers was found, quite pronounced for endocardial cushion defects and ventricular septum defects. There were no statistically significant differences in the sex distribution of specific malformations in infants with DS and in non-DS infants. © 1996 Wiley-Liss, Inc. 相似文献