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1.
Phillip F. Chance 《Neuromolecular medicine》2006,8(1-2):159-173
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant
disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence,
and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment
neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically
affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of
HNPP patients include segmental demyelination and tomaculous or “sausage-like” formations. Mild overlap of clinical features
with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and
CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite
distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical
region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural
nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary
neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes
of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain,
paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis
for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s).
Episodes are often triggered by infections, immunizations, the puerperium, and stress. Electrophysiological studies show normal
or mildly prolonged motor nerve conduction velocities distal to the affected brachial plexus. Pathological studies have found
axonal degeneration in nerves examined distal to the plexus abnormality. In some HNA pedigrees there are characteristic facial
features, including hypotelorism. The prognosis for recovery of normal function of affected limbs in HNA is good, although
recurrent episodes may cause residual deficits. HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found. 相似文献
2.
臂丛神经卡压综合征的诊治 总被引:4,自引:0,他引:4
目的探讨位于臂丛神经及其前中斜角肌周围的神经卡压综合征的特点及其诊治方法。方法2003年7月~2006年1月,采用门诊收集病例,根据病情轻重分组,分别采用药物、局部封闭及手术方法治疗179例确诊为臂丛神经和(或)其属支卡压综合征的患者。其中采用药物、手法治疗89例;注射治疗74例,其中需要第二次注射32例;手术治疗16例,同时或分别进行双侧手术2例,需要第二次手术者1例。结果128例患者得到1个月~2年5个月随访。其中,药物手法治疗55例,症状均有不同程度改善或能维持现状。局部注射治疗58例(其中接受第二次注射者24例),2例出现心跳减缓,其余病例无并发症发生,VAS评分情况:1分2例,2分16例,3分20例,4分12例,5分3例,6分3例,7分2例;第二次注射结果:2分5例,3分16例,4分3例。手术治疗15例,其中10例术后症状得到明显改善,恢复工作。结论臂丛神经及其属支涉及其周围众多神经,可产生众多症状;明确病因后,治疗上以保守治疗为主,效果欠佳者采用手术治疗,均可取得较好疗效。 相似文献
3.
Immunocytochemical methods have been used to examine the localisation of 3 neurofilament proteins and the calcium binding protein, calbindin D28k, in whole mount preparations of the submucous plexus in the Wistar rat. Neurofilament-M (160 kDA protein) was present in 40% of the submucosal neurons, staining fine filaments in the soma and the axonal processes. Calbindin D28k was present in 40% of the submucosal neurons staining both the soma and nerves within the plexus. The neurofilament proteins and calbindin D28k were never observed within the same neurons. Neurofilament-M was co-localised with substance P and calcitonin gene-related peptide but not somatostatin or the other neuropeptides investigated. Calbindib D28k was co-localised with vasoactive intestinal polypeptide and neuropeptide Y. Galanin- and somatostatin-immunoreactive neurons did not contain either the neurofilament proteins or calbindin D28k. The results demonstrate the presence of subsets of submucosal neurons that can be distinguished by the presence of neurofilament-M or calbinsin D28k. 相似文献
4.
A serotonin (5-HT)-mediated phosphoinositide hydrolysis response was characterized in fibroblasts cultured from rabbit choroid plexus. 5-HT elicited a maximum 8-fold increase in [3H]inositol-phosphate ([3H]IP) formation, while the partial agonists, (+)-lysergic acid diethylamide and (−)-1-(4-bromo-2,5-dimethyoxyphenyl)-2-aminopropane caused 2- and 5-fold increases, respectively. Mianserin, ketanserin, and spiperone were equipotent at blocking the 5-HT-mediated response. Thus, agonist and antagonist profiles indicate interactions with 5-HT2 receptors. 相似文献
5.
Introduction Choroid plexus cysts can lead to isolation of the lateral ventricles and distension of the third ventricle. We present an
ultrasonographic video documentation of an infant with variably shaped and localized choroid plexus cyst of the third ventricle.
Case report An infant had periods of increased intracranial pressure with changing dilatation of the first to third ventricle. Cerebral
ultrasonography of the not crying boy demonstrated a choroid plexus cyst limply hanging down from the roof of the third ventricle
to the beginning of the aqueduct of Sylvius. During crying, the cyst prolapsed from the third into left lateral ventricle
and was strangled by the foramen of Monro. Endoscopic cyst fenestration and third ventriculostomy continuously solved the
problem of intermittent hydrocephalus occlusus.
Conclusion Depending not only on localization and size but also on cyst form and cerebrospinal fluid pressure, a single choroid plexus
cyst can cause various obstructions of cerebrospinal fluid pathways. 相似文献
6.
张金立 《河北职工医学院学报》2010,27(3):32-33
目的探讨臂丛加强化麻醉后颈部抽动的原因及防治。方法对近年来在麻醉方法、用药相同,术后颈部抽动患者的观察治疗过程进行分析。结果臂丛麻醉并发颈部抽动给予充分镇静后可完全治愈。结论麻醉后并发颈部抽动为药物副作用及颈局部刺激的综合作用。 相似文献
7.
第三脑室脑膜瘤(九例报告及文献回顾) 总被引:1,自引:0,他引:1
目的探讨第三脑室脑膜瘤的组织发生学、临床特点和外科治疗。方法报道9例经影像学、手术和病理学证实的第三脑室脑膜瘤,并回顾相关文献。结果第三脑室前部脑膜瘤5例,第三脑室后部脑膜瘤4例,平均发病年龄25.6岁,无明显性别差异;最常见的症状是梗阻性脑积水,缺乏硬脑膜附着为其影像学特征。肿瘤全切除6例。结论第三脑室脑膜瘤是一种罕见的脑室内脑膜瘤,起源于中间帆脉络组织或脉络丛,经半球间裂-胼胝体-穹隆间入路是合理的手术路径选择。 相似文献
8.
磁刺激运动诱发电位在腰椎间盘突出所致的腰骶神经根病变中的应用研究 总被引:2,自引:0,他引:2
在35例有L5和/或S1神经根损害表现的腰椎间盘突出患者腰椎区进行磁刺激运动诱发电位(MEP)检查,测定、记录胫前肌、展肌和小趾展肌MEP的起始潜伏期(OL)。结果显示,35例中至少有一条总侧肌肉MEP异常33例(94.3%)。在L4-5椎间盘突出中,以胫前肌的MEP异常为主;在L5-S1椎间盘突出中,以小趾展肌的MEP异常为主。表明腰椎区MEP检查对腰椎间盘突出所致的腰骶神经根病变较为敏感,可为临床诊断提供可靠依据并有助于定位诊断。 相似文献
9.
神经移位修复臂丛神经根性撕脱伤 总被引:3,自引:2,他引:1
1987年7月~1994年6月,对21例臂丛神经根性撕脱伤采用神经移位修复。其中复合移位4组神经(膈神经、副神经、颈丛运动支、肋间神经)者1例,3组(膈神经、副神经、颈丛运动支)者6例,2组(膈神经、副神经)者9例,1组(膈神经或颈丛运动支或肋间神经)者5例。术中发现臂丛神经变异1例,对4例合并锁骨下动脉损伤者,在神经移位的同时进行血管修复,促进患肢的血液循环,有利于神经的康复。随访到19例,随访时间为8个月~6年2个月,优良率达73.7%。认为,神经移位术是修复神经根性撕裂伤的常规方法,合并血管损伤者也应同时修复,对促进神经功能恢复有利 相似文献
10.
Ronald C. Reinsch MD 《American journal of obstetrics and gynecology》1997,176(6):1381-1383
OBJECTIVE: The purpose of the study was to determine the incidence of isolated choroid plexus cysts in association with trisomy 18 and other abnormalities.STUDY DESIGN: All patients from June 1992 through December 1995 were followed up after a screening ultrasonography. Any patient with a choroid plexus cyst was offered genetic counseling and an amniocentesis. Screening ultrasonographic examinations were performed on 16,059 patients, and 301 patients had a fetus with a choroid plexus cyst. One hundred thirty patients elected to have an amniocentesis. Patients were followed up to delivery.RESULTS: Two hundred sixty-three patients had an isolated choroid plexus cyst. Thirty-eight patients had a choroid plexus cyst associated with additional risk factors. Risk factors included advanced maternal age, additional ultrasonographic abnormalities, past obstetric history, or family history. No abnormalities were noted in the group with an isolated choroid plexus cyst. Four patients had an abnormality when the choroid plexus cyst was associated with an additional risk factor, including two patients with trisomy 18 and one with trisomy 21.CONCLUSION: An isolated choroid plexus cyst was not associated with a trisomy or other abnormalities in this study. When a choroid plexus cyst was associated with an additional risk factor, 10.5% of the patients had an abnormality. Amniocentesis is recommended when a choroid plexus cyst is found in association with additional risk factors. (Am J Obstet Gynecol 1997;176:1381-3.) 相似文献