全文获取类型
收费全文 | 497篇 |
免费 | 57篇 |
国内免费 | 2篇 |
专业分类
耳鼻咽喉 | 13篇 |
儿科学 | 3篇 |
妇产科学 | 7篇 |
基础医学 | 120篇 |
口腔科学 | 2篇 |
临床医学 | 49篇 |
内科学 | 166篇 |
皮肤病学 | 13篇 |
神经病学 | 26篇 |
特种医学 | 20篇 |
外科学 | 62篇 |
综合类 | 2篇 |
预防医学 | 30篇 |
眼科学 | 3篇 |
药学 | 19篇 |
中国医学 | 1篇 |
肿瘤学 | 20篇 |
出版年
2024年 | 1篇 |
2023年 | 4篇 |
2022年 | 5篇 |
2021年 | 9篇 |
2020年 | 8篇 |
2019年 | 9篇 |
2018年 | 12篇 |
2017年 | 10篇 |
2016年 | 14篇 |
2015年 | 16篇 |
2014年 | 19篇 |
2013年 | 20篇 |
2012年 | 32篇 |
2011年 | 40篇 |
2010年 | 20篇 |
2009年 | 21篇 |
2008年 | 23篇 |
2007年 | 32篇 |
2006年 | 24篇 |
2005年 | 18篇 |
2004年 | 31篇 |
2003年 | 20篇 |
2002年 | 20篇 |
2001年 | 20篇 |
2000年 | 16篇 |
1999年 | 16篇 |
1998年 | 9篇 |
1997年 | 8篇 |
1996年 | 10篇 |
1995年 | 4篇 |
1994年 | 4篇 |
1993年 | 1篇 |
1992年 | 8篇 |
1991年 | 8篇 |
1990年 | 6篇 |
1989年 | 4篇 |
1988年 | 6篇 |
1987年 | 6篇 |
1986年 | 8篇 |
1985年 | 5篇 |
1983年 | 1篇 |
1982年 | 1篇 |
1979年 | 1篇 |
1975年 | 2篇 |
1974年 | 3篇 |
1968年 | 1篇 |
排序方式: 共有556条查询结果,搜索用时 15 毫秒
1.
2.
Patrick Fransen MD Jacques Favre MD Philippe Maeder MD Heinz Fankhauser MD 《Journal of clinical neuroscience》1994,1(4):274-276
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) is a rare pseudo-neoplastic disorder of the cerebellum with typical MRI findings. A 25-year-old man presenting with progressive neck pain, dizziness, and impaired vision is reported. CT and MRI revealed a left cerebellar haemispheric mass and obstructive hydrocephalus. Lhermitte-Duclos disease was histologically confirmed after surgical removal of the lesion. The typical MRI appearance of a nonenhancing haemispheric cerebellar mass with preservation and exaggeration of the normal gyral pattern allows pre-operative diagnosis of this condition. The literature is reviewed and clinical presentation, radiology and histopathology are discussed. 相似文献
3.
Van Camp G Coucke PJ Akita J Fransen E Abe S De Leenheer EM Huygen PL Cremers CW Usami S 《Human mutation》2002,20(1):15-19
Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). Here we describe two additional families originating from Europe and Japan with a KCNQ4 missense mutation (W276S) that was previously found in one European family. We compared the disease-associated haplotype of the three W276S-bearing families using closely linked microsatellite markers and intragenic single nucleotide polymorphisms. Differences between the haplotypes were found, excluding a single founder mutation for the families. Therefore, the W276S mutation has occurred three times independently, and most likely represents a hot spot for mutation in the KCNQ4 gene. 相似文献
4.
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation 总被引:6,自引:0,他引:6
下载免费PDF全文
![点击此处可从《Journal of medical genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
5.
Detection of human immunodeficiency virus type 1 (HIV-1) in heel prick blood on filter paper from children born to HIV-1-seropositive mothers. 总被引:3,自引:10,他引:3
下载免费PDF全文
![点击此处可从《Journal of clinical microbiology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
P N Nyambi K Fransen H De Beenhouwer E N Chomba M Temmerman J O Ndinya-Achola P Piot G van der Groen 《Journal of clinical microbiology》1994,32(11):2858-2860
The human immunodeficiency virus type 1 (HIV-1) DNA PCR results of 94 dried blood spot (DBS) samples on filter paper and corresponding venous blood in EDTA obtained from infants born to HIV-1-seropositive mothers were compared. In addition, the results of HIV-1 DNA PCR on DBS and the HIV-1 RNA PCR from plasma of 70 paired samples were compared. A 100% specificity and a 95% sensitivity for HIV-1 DNA PCR on DBS compared with results for venous blood were observed for the 94 paired samples. The results of the DBS HIV-1 DNA PCR and HIV-1 RNA PCR of 70 corresponding plasma samples correlated perfectly (100%). The DBS HIV-1 DNA PCR method proved reliable for HIV-1 detection. 相似文献
6.
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns 总被引:8,自引:3,他引:8
Fransen E; D'Hooge R; Van Camp G; Verhoye M; Sijbers J; Reyniers E; Soriano P; Kamiguchi H; Willemsen R; Koekkoek SK; De Zeeuw CI; De Deyn PP; Van der Linden A; Lemmon V; Kooy RF; Willems PJ 《Human molecular genetics》1998,7(6):999-1009
L1 is a neural cell adhesion molecule mainly involved in axon guidance and
neuronal migration during brain development. Mutations in the human L1 gene
give rise to a complex clinical picture, with mental retardation,
neurologic abnormalities and a variable degree of hydrocephalus. Recently,
a transgenic mouse model with a targeted null mutation in the L1 gene was
generated. These knockout (KO) mice show hypoplasia of the corticospinal
tract. Here we have performed further studies of these KO mice including
magnetic resonance imaging of the brain, neuropathological analysis and
behavioral testing. The ventricular system was shown to be abnormal with
dilatation of the lateral ventricles and the 4th ventricle, and an altered
shape of the Sylvius aqueduct. Additionally, the cerebellar vermis of the
KO mice is hypoplastic. Their exploratory behavior is characterized by
stereotype peripheral circling reminiscent of that of rodents with induced
cerebellar lesions.
相似文献
7.
A 27-year-old woman presented with right spinal accessory juxtabulbar schwannoma, associated with hydrocephalus. The only specific clinical symptom was long-standing weakness of the right trapezius. C.T. scan evoked a cerebellar tumor, whilst the jugular foramen appeared normal. Vertebral angiography was not decisive. M.R.I. suggested an extra-axial tumor. Post-operative evolution was entirely favourable. Schwannomas of the 9th, 10th and 11th cranial nerves are generally located at the level of the jugular foramen but can also be observed along the extracranial path of these nerves. An intracranial paramedial, or so-called "intracisternal" localization is rare and is best diagnosed by magnetic resonance imaging. 相似文献
8.
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9) 总被引:6,自引:0,他引:6
Verhagen WI Bom SJ Huygen PL Fransen E Van Camp G Cremers CW 《Archives of neurology》2000,57(7):1045-1047
OBJECTIVE: To describe the decline of vestibulocochlear function in a man with vestibulocochlear dysfunction caused by a Pro51Ser mutation within the COCH gene on chromosome 14q12-13 (DFNA9). METHODS: A follow-up of more than 15 years was performed in a single case. Clinical investigations were supplemented by oculomotor, vestibular, and auditory tests. RESULTS: A 50-year-old man had had progressive sensorineural hearing loss and dysequilibrium for 15 years; he had been asymptomatic at the age of 35 years. He suffered from instability in the dark, head movement-dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies. He also reported tinnitus. Disease progressed to severe bilateral high-frequency hearing impairment and vestibular areflexia. Fluctuation of vestibulocochlear function was documented and mentioned by the patient. CONCLUSIONS: Our patient proved to suffer from an autosomal dominant vestibulocochlear disorder caused by a COCH gene mutation. The remarkable medical history has some features in common with Meniere disease; however, there are also different clinical and neurophysiological features. In the family, phenotypic variability is present. 相似文献
9.
10.
Relationship Between Objectively Assessed Physical Activity and Fatigue in Patients With Rheumatoid Arthritis: Inverse Correlation of Activity and Fatigue
下载免费PDF全文
![点击此处可从《Arthritis care & research》网站下载免费的PDF全文](/ch/ext_images/free.gif)