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1.
Kei Kamide Yoshihiro Kokubo Hironori Hanada Junko Nagura Jin Yang Shin Takiuchi Chihiro Tanaka Mariko Banno Yoshikazu Miwa Masayoshi Yoshii Tetsutaro Matayoshi Hisayo Yasuda Takeshi Horio Akira Okayama Hitonobu Tomoike Yuhei Kawano Toshiyuki Miyata 《Hypertension research》2006,29(4):243-252
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese. 相似文献
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Naomi Matsumoto Manabu Ikeda Ryuji Fukuhara Takayuki Hyodo Tomohisa Ishikawa Takaaki Mori Yasutaka Toyota Teruhisa Matsumoto Hiroyoshi Adachi Shunichiro Shinagawa Kazuhiko Hokoishi Hirotaka Tanabe Nobutsugu Hirono 《Brain and nerve》2006,58(9):785-790
OBJECTIVE: Neuropsychiatric disturbances are common and burdensome symptoms of dementia. Assessment and measurement of neuropsychiatric disturbances are indispensable to the management of patients with dementia. Neuropsychiatric Inventory (NPI) is a comprehensive assessment tool that evaluates psychiatric symptoms in dementia. We translated the NPI-Caregiver Distress Scale part of NPI (NPI-D) and NPI-Brief Questionnaire Form (NPI-Q) into Japanese and examined their validity and reliability. SUBJECTS AND METHODS: The subjects were 152 demented patients and the caregivers who lived with them. These patients consisted of 76 women and 76 men; their mean age was 73.9 +/- 7.8 (S.D.; range: 49 to 93) years. Their caregivers consisted of 46 men and 106 women; their mean age was 65.0 +/- 11.4 (S.D.; range: 35 to 90) years. The Mini-Mental State Examination (MMSE) was conducted with all patients and NPI-Q, NPI, NPI-D, and the Zarit caregiver burden interview (ZBI) were conducted with all caregivers. We examined validity of NPI-D by comparing its score with the MMSE and ZBI scores, and the validity of NPI-Q by comparing its score with the NPI and NPI-D scores. In order to evaluate test-retest reliability, NPI-D was re-adopted to 30 randomly selected caregivers by a different examiner one month later and NPI-Q was re-executed by 27 randomly selected caregivers one day later. RESULTS: Total NPI-D score was significantly correlated with ZBI (rs = 0.59, p < 0.01). Test-retest reliability of NPI-D was adequate (ri = 0.47, p < 0.01). Total NPI-Q severity score and distress score were strongly correlated with NPI (r = 0.77, p < 0.01) and NPI-D (r = 0.80, p < 0.01) scores, respectively. Test-retest reliability of the scores of NPI-Q was acceptably high (the severity score; ri = 0.81, p < 0.01, the distress score; ri = 0.80, p < 0.01). CONCLUSION: The Japanese version of NPI-D and NPI-Q demonstrated sufficient validity and reliability as well as the original version of them. These are useful tools for evaluating psychiatric symptoms in demented patients and their caregivers' distress attributable to these symptoms. 相似文献
4.
Resolution of homonymous visual field loss documented with functional magnetic resonance and diffusion tensor imaging. 总被引:5,自引:0,他引:5
Masaki Yoshida Masahiro Ida Thien Huong Nguyen Marie-Therese Iba-Zizen Luc Bellinger Jean Louis Stievenart Takehiko Nagao Shinsuke Kikuchi Takaaki Hara Takuya Shiba Kenji Kitahara Emmanuel Alain Cabanis 《Journal of neuro-ophthalmology》2006,26(1):11-17
A 68-year-old man developed right homonymous hemianopic paracentral scotomas from acute infarction of the left extrastriate area. He was studied over the ensuing 12 months with visual fields, conventional MRI, functional MRI (fMRI), and diffusion tensor imaging (DTI). As the visual field defect became smaller, fMRI demonstrated progressively larger areas of cortical activation. DTI initially showed that the lesioned posterior optic radiations were completely interrupted. This interruption lessened in time and had disappeared by one year after onset. fMRI and DTI are innovative measures to follow functional and structural recovery in the central nervous system. This is the first reported application of these imaging techniques to acute cerebral visual field disorders. 相似文献
5.
Toru Ishizaka Richard G Ohye Caren S Goldberg Stephen R Ramsburg Takaaki Suzuki Eric J Devaney Edward L Bove 《European journal of cardio-thoracic surgery》2003,23(5):715-718
OBJECTIVE: Given the limited availability of small-sized cryopreserved pulmonary homografts, we implanted a series of Shelhigh No-React porcine pulmonic valve conduits (SPVC). The aim of this study was to evaluate the short-term performance following implantation. METHODS: From February 2000 to September 2000, the SPVC was implanted 25 times in 24 patients in the right ventricular outflow tract (RVOT) to correct congenital anomalies. The anatomical malformations were TOF/PA in eight patients, TGA/VSD/PS in four, truncus arteriosus in four, IAA/VSD/AS or AA in four, l-TGA/VSD in two and other in two. Age at operation was 2.8+/-3.9 years (mean+/-SD), including 12 patients under 1 year. The median conduit size was 14mm (range, 10-18). RESULTS: At a mean follow-up of 23+/-5 months, two late deaths (8%) have occurred. Although they were not primarily conduit related, both showed severe conduit stenosis. Twenty-one conduits (84%) showed mild to severe conduit stenosis, regurgitation or both. Two patients underwent balloon dilatation for distal conduit stenosis. Twelve conduits (48%) in 11 patients were removed at a median of 12 months (range, 2-18 months) due to RVOT obstruction in 11 and free conduit insufficiency with pseudoaneurysm in one. The typical findings of the explanted conduits were prominent intimal peel formation at the distal anastomosis without calcification. The actuarial freedom from reintervention at 18 months was 48+/-10%. CONCLUSIONS: Our experience of the SPVC with the diameter of 14mm or less has revealed a high incidence of distal conduit stenosis due to intimal peel formation resulting in early conduit failure. These findings have led us to abandon its use when other options are available. 相似文献
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Takaaki Ohmori Ryo Tabei Norimasa Arita Mari Kondo Tetsuo Kozawa Yoshinori Chikamori Norifumi Ueda 《Pathology international》1983,33(5):999-1007
This report concerns a case of solitary extramedullary plasmacytoma of the left submandibular lymph node in a 56-year-old man. The tumor showed monoclonal proliferation of abnormal plasma cells which revealed highly positive stainings of both methylgreen pyronin and kappa light chain using the immunoperoxidase technique in the cytoplasms, and further revealed massive'.amyloid'deposits in the stroma, which suggested the possibility of sequential amyloid formation upon the secretion of paraprotein by tumor cells. 相似文献
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10.
Naoko Udaka Takaaki Ito Yasushi Sato Masayoshi Kanisawa Shinobu Satoh 《Brain structure & function》1995,192(5):399-406
The expression of gap junction protein was examined immunohistochemically using affinity-purified antibody against rat liver gap junction protein, connexin 32 (Cx32), in the kidneys of fetal (gestation days 13–16) and adult Syrian golden hamsters. Phalloidin histochemical staining, PNA- and RCA I-lectin stainings, NCAM immunostaining, and alkaline phosphatase and Na+-K+-ATPase enzyme-histochemical staining were performed in combination with Cx32 immunostaining. The kidney sections were observed with a confocal scanning laser microscope. By gestation day 13, Cx32 immunoreactivity was observed in the differentiating tubules. The Cx32 staining was localized on the lateral cell membrane of the cells lining the developing proximal tubules, while the S-shaped bodies, developing distal tubules, and collecting tubules showed no positive immunostaining. As the kidney developed, the density of Cx32 immunoreactivity increased. As the gap junction provides pathways for cell-cell communication, the development of Cx32 expression may imply that this structure plays an important role in renal tubule development. Confocal scanning laser microscopy provided a clear image of the fluorescence-labeled cell structures, free from out-of-focus blur. Using the same sections, stereoscopic images were easily reconstructed from serial optical sections, and were helpful in understanding the spatial distribution of Cx32 expression in the developing fetal proximal tubules. 相似文献