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971.
Arun Kumar.S.Bilodi S. Bilodi MR Gangadhar 《Journal of the Anatomical Society of India》2012,61(2):214-220
Hereditary ectodermal dysplasia is a group of disorder running in the family where more than one manifestation occurs involving skin, nail, hair, glands and teeth In the present study, five cases were detected in district of Bangalore,Karnataka and studied in detail. Out of them three were girls and two boys showing manifestation dysplasia of teeth, skin & sweat glands between the age groups of 5 years to 14 years of age. There are three girls between 5 to 18 years showing oligodentia (0.13%) in 2 girls and anodentia in one girl (0.67%) associated with periorbital wrinkling and mild mid facial hypoplasia.The other 2 were boys between 8years and 15 years of age showed oligodentia, anhydosis brittle nails with vertical ridges, and 15 years old boy also showed periorbital wrinkling. The mothers of these five patients were also studied. Consanguity along with heredity and hypertension has played a vital role in the development of ectodermal dysplasia These 5 cases were compared and correlated with available literatures. 相似文献
972.
[目的]探讨延迟钆增强磁共振软骨成像技术在评估髋关节发育不良继发骨关节炎中的作用,并评价该技术指标与其他临床和影像学指标之间的相关性.[方法]2008年1月~2009年3月使用延迟钆增强磁共振软骨成像(dGEMRIC)技术对18例成人髋关节发育不良患者共36髋进行检查.临床资料包括患者年龄和WOMAC疼痛评分.影像学资料包括骨盆正位X线平片中关节间隙的宽度和外侧中心-边缘角(CE角)的大小.使用SPSS软件分析dGEMRIC指数和关节间隙宽度、发育不良严重程度、疼痛以及年龄之间的相关性.[结果]dGEMRIC指数与WOM-AC疼痛评分、外侧CE角存在显著相关性,而关节间隙宽度与上述指标均不相关.同时,dGEMRIC指数在不同严重程度髋关节发育不良组中存在统计学差异,而关节间隙宽度不存在这种差异.年龄因素与其他因素均不相关.[结论]对于髋关节发育不良的患者,dGEMRIC指数作为衡量早期骨关节炎的检查标准是有效的.dGEMRIC指数与疼痛症状和髋关节发育不良严重程度存在相关性,且不同严重程度的髋关节发育不良dFEMRIC指数也是有统计学差异的. 相似文献
973.
[目的]探讨全髋关节置换术治疗成人CroweⅣ型髋臼发育不良的临床疗效。[方法]对26例(31髋)成人CroweⅣ型髋臼发育不良并骨性关节炎患者行全髋关节置换术,以术前、术后Harris评分和放射学检查评价疗效。[结果]26例均得到随访,随访时间平均为21个月(10个月~4年)。术前Harris评分平均(36.45±2.47)分,术后(82.84±3.58)分,(P﹤0.01)。1例出现坐骨神经完全损伤,经保守治疗6个月后部分恢复。[结论]人工全髋关节置换术治疗成人CroweⅣ型髋臼发育不良是安全、有效的手术方法。 相似文献
974.
Focal osseous dysplasia (FOD) is one of the benign fibro-osseous lesions of the jaw bones and the most commonly occuring benign
fibro-osseous lesion. This entity occurs more commonly in females and has a predilection for African Americans. Radiographically,
the lesion has a variable appearance depending on the duration but may appear as a radiolucent to radiopaque lesion that can
be well to poorly defined. Hisotologically, when biopsied, there are fragments of bony trabeculae intermixed with fibrous
stroma with incomplete stromal vasculature. The main differential diagnosis is with ossifying fibroma, which is neoplastic
while FOD is considered a reactive process. Most patients with FOD may be followed clinically without surgical intervention. 相似文献
975.
随着早产儿存活率的不断提高,早产儿支气管肺发育不良(BPD)的问题日益突出。BPD需长时间用氧治疗,病死率高,存活者常遗留高反应性呼吸道疾病、反复下呼吸道感染、喂养困难、生长发育迟缓等问题,因此一直是新生儿重症监护室最为棘手的问题之一,也是严重影响早产儿生存质量的重要因素。近年来研究认为BPD的发病明显受基因和环境因素相互作用的影响。现就近年来有关早产儿BPD与肺表面活性物质蛋白基因多态性的相关研究进行综述。 相似文献
976.
目的 总结骨纤维结构不良(FD)的核素骨显像特征,并与原发性骨肿瘤、肿瘤骨转移以及Paget's病等鉴别.方法 回顾性分析2003--2010年在上海交通大学附属第六人民医院骨质疏松和骨病专科门诊或者病房收治的27例FD患者的临床资料,所有FD患者均接受常规<'99>Tcm-MDP全身骨显像并经手术病理证实.对<'99... 相似文献
977.
Ictal autonomic pupillary dilation is common; however, miosis is rare. We describe a case of focal seizures secondary to cortical dysplasia presenting with bilateral pupillary miosis, rendered seizure free by resective surgery. The seizure-onset zone was localized within the left middle parietal gyrus by intracranial electrographic recording. Seizure onset was coincident with focal left centroparietal fast spike activity on electroencephalography (EEG). A large region of the left frontocentral cortical dysplasia was demonstrated on magnetic resonance imaging (MRI). Complete resection of the area of cortical dysplasia and additional cortical regions of ictal activity, identified using intracranial EEG, rendered the patient seizure free. 相似文献
978.
Altered layer-specific gene expression in cortical samples from patients with temporal lobe epilepsy
Rossini L Moroni RF Tassi L Watakabe A Yamamori T Spreafico R Garbelli R 《Epilepsia》2011,52(10):1928-1937
Purpose: Neuropathologic investigations frequently reveal the presence of architectural cortical dysplasia in patients with temporal lobe epilepsy (TLE), sometimes as an isolated finding but more commonly associated with hippocampal sclerosis (HS) and white matter abnormalities. The histologic pattern and the developmental origin of these alterations are not clear, and their diagnostic criteria are poorly defined. The aim of this study was to investigate the expression patterns of layer‐specific genes in cortical specimens from patients with TLE presenting different subtypes of cortical malformations in order to elucidate the disorganization of the laminar architecture of such epileptogenic abnormalities and provide evidence to enable a more objective neuropathologic diagnosis. Methods: We analyzed the expression patterns of CUX2, RORBETA, ER81, NURR1, and CTGF genes, respectively specific markers of layers II–III, IV, V, VI, and VIb, in surgical samples by means of in situ hybridization and compared them with those observed in control cortices. The pathologic samples included typical architectural dysplasia (group 1); temporal lobe sclerosis, a variant of architectural dysplasia (group 2); and white matter heterotopic neuronal aggregates, namely small lentiform nodules (group 3). These abnormalities may have been associated or not with HS. Key Findings: All of the genes had a laminar expression pattern in normal cortices, whereas groups 1 and 2 showed alterations mainly involving layers V and VI, and highlighted by the altered distribution of ER81‐ and NURR1‐positive cells. The expression of ER81 and NURR1 genes was different among the groups, and atypical coexpression of NURR1 and CUX2 mRNA was detected in the neurons making up the small lentiform nodules. Significance: These findings indicate that defects in cortical organization involving the deeper cortical neurons may be a common etiopathogenic mechanism in group 1 and 2 cortical dysplasia, whether isolated or associated with HS, and that developmental disorders may also be present in the white matter (group 3). They also provide evidence that the layer‐specific genes can be usefully used to investigate the neuropathology of human cortical dysplasia. 相似文献
979.
Purpose: Periventricular nodular heterotopia (PNH) is, in humans, often associated with difficult‐to‐control epilepsy. However, there is considerable controversy about the role of the PNH in seizure generation and spread. To study this issue, we have used a rat model in which injection of methylazoxymethanol (MAM) into pregnant rat dams produces offspring with nodular heterotopia‐like brain abnormalities. Methods: Electrophysiologic methods were used to examine the activity of the MAM‐induced PNH relative to activity in the neighboring hippocampus and overlying neocortex. Recordings were obtained simultaneously from these three structures in slice preparations from MAM‐exposed rats and in intact animals. Bath application or systemic injection of bicuculline was used to induce epileptiform activity. Key Findings: In the in vitro slice, epileptiform discharge was generally initiated in hippocampus. In some cases, independent PNH discharge occurred, but the PNH never “led” discharges in hippocampus or neocortex. Intracellular recordings from PNH neurons confirmed that these cells received synaptic drive from both hippocampus and neocortex, and sent axonal projections to these structures—consistent with anatomic observations of biocytin‐injected PNH cells. In intact animal preparations, bicuculline injection resulted in epileptiform discharge in all experiments, with a period of ictal‐like electrographic activity typically initiated within 2–3 min after drug injection. In almost all animals, the onset of ictus was seen synchronously across PNH, hippocampal, and neocortical electrodes; in a few cases, the PNH electrode (histologically confirmed) did not participate, but in no case was activity initiated in the PNH electrode. Interictal discharge was also synchronized across all three electrodes; again, the PNH never “led” the other two electrodes, and typically followed (onset several milliseconds after hippocampal/neocortical discharge onset). Significance: These results do not support the hypothesis that the PNH lesion is the primary epileptogenic site, since it does not initiate or lead epileptiform activity that subsequently propagates to other brain regions. 相似文献
980.
We report the case of a child who presented at 3 months of age with complex partial seizures, a linear facial nevus, and magnetic resonance imaging (MRI) showing delayed myelination and thickened cortex in the left temporal, parietal, and occipital regions. A repeat 3Tesla MRI scan with and without contrast at 6 months again showed cortical dysplasia of the left hemisphere. No other abnormalities were seen. A third scan at 3 years 6 months showed a 2.5 cm, round, hyperintense lesion on both T(2) and T(1) sequences. The lesion and surrounding dysplastic cortex were resected. Palmini grade IIA dysplasia and a ganglioglioma were diagnosed. These findings suggest that cellular components of cortical dysplasias have oncogenic potential. 相似文献