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1.
Bernard–Soulier syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder. Pregnancy in patients with BSS is characterized by ante‐, intra‐, or postpartum haemorrhage, which may be delayed and severe. There is no consensus in the management of BSS in pregnancy and so far only 16 pregnancies in nine patients have been described. We report a further three pregnancies in two women with the syndrome. We also outline our management of pregnant patients with BSS. 相似文献
2.
Samir Kumar Praharaj mbbs md dpm Nishant Goyal mbbs md dpm Sukanto Sarkar mbbs md dpm Dhruv Bagati mbbs Prakriti Sinha mp hil Vinod Kumar Sinha mbbs md dpm 《Psychiatry and clinical neurosciences》2009,63(2):230-234
Reported herein is a case of obsessive–compulsive disorder with persistent and distressing musical obsessions along with other symptoms. Advanced source analysis of electroencephalographic data indicated high spectral power over the bifrontal region. The musical symptoms were resistant to pharmacotherapy but there was some reduction in frequency and duration of musical obsessions with thought-stopping technique. 相似文献
3.
H. J. J. Kars Juha M. Hijmans Jan H. B. Geertzen Wiebren Zijlstra 《Journal of diabetes science and technology》2009,3(4):931-943
The objective of this review is to identify and review publications describing the impact of reduced somatosensation on balance. Based on knowledge of the association between specific somatosensory loss and deterioration of balance, conclusions can be made about role of somatosensation in standing balance.A systematic literature review is presented in which publications from the years 1993 through 2007 were searched in Medline and Embase. Medical Subject Headings (MESH) terms and free text words (related to balance, somatosensory loss, and lower limb) were used to perform the searches. Fifteen articles were selected for detailed review based on predetermined inclusion criteria, and three of the included articles described the effect of experimentally reduced somatosensation on balance in healthy subjects. Ten of the articles described balance in diabetic neuropathy (DN). The last two included articles described balance in Charcot-Marie-Tooth (CMT) disease type 1A (CMT1A) or type 2 (CMT2).The literature indicates that the tactile sensation is reduced in DN, CMT1A, and CMT2 and when the plantar surface of the feet was hypothermically anesthetized. Joint motion sensation seems to be impaired in patients with DN, and passive joint position sensation appears to be reduced in healthy subjects with anesthesia of ankle and foot from prolonged ischemia. This reduced somatosensation seems to have a negative effect on balance in patients with DN and CMT2; however, this appeared not to be the case in patients with CMT1A and in healthy subjects. 相似文献
4.
Joan M. Farrell Ida A. Shaw 《Journal of behavior therapy and experimental psychiatry》2009,40(2):317-328
This study tests the effectiveness of adding an eight-month, thirty-session schema-focused therapy (SFT) group to treatment-as-usual (TAU) individual psychotherapy for borderline personality disorder (BPD). Patients (N = 32) were randomly assigned to SFT-TAU and TAU alone. Dropout was 0% SFT, 25% TAU. Significant reductions in BPD symptoms and global severity of psychiatric symptoms, and improved global functioning with large treatment effect sizes were found in the SFT-TAU group. At the end of treatment, 94% of SFT-TAU compared to 16% of TAU no longer met BPD diagnosis criteria (p < .001). This study supports group SFT as an effective treatment for BPD that leads to recovery and improved overall functioning. 相似文献
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7.
Amit Dang MBBS Gaurav Garg Padmanabh V. Rataboli MD 《The International journal of eating disorders》2009,42(4):385-386
Nocturnal Sleep‐Related Eating Disorder (NSRED) is a well‐documented sleeping disorder where the person is reported to experience bizarre eating behavior during sleep. Although various causes are implicated in this disorder, role of drugs cannot be ruled out. Here we narrate an interesting rare case report of a drug‐induced new onset NSRED, where a 45‐year‐old man on zolipdem performed an unexpected and bizarre eating behavior during somnambulistic state, type of which has not been reported earlier in the literature. The case falls under even rarer category as such behavior in sleep is reported mainly in woman. © 2008 by Wiley Periodicals, Inc. Int J Eat Disord 2009 相似文献
8.
Monica Conciatori Christopher J Stodgell Susan L Hyman Melanie O'Bara Roberto Militerni Carmela Bravaccio Simona Trillo Francesco Montecchi Cindy Schneider Raun Melmed Maurizio Elia Lori Crawford Sarah J Spence Lucianna Muscarella Vito Guarnieri Leonardo D'Agruma Alessandro Quattrone Leopoldo Zelante Daniel Rabinowitz Tiziana Pascucci Stefano Puglisi-Allegra Karl-Ludvig Reichelt Patricia M Rodier Antonio M Persico 《Neuropsychopharmacology》2004,55(4):413-419
BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference. 相似文献
9.
目的 通过TMJ上腔造影,结合关节腔冲洗、注药及术后下颌磨牙区牙合垫治疗不可复性盘前移位。方法 根据病史结合临床症状选取38例患者,其中单纯性不可复性盘前移位患者15例,合并滑膜炎表现23例。按常规进行关节上腔造影术后拍摄数字化TMJ开闭口断层片、开口度检查,部分患者使用生理盐水进行关节腔冲洗。冲洗后根据病情,关节腔内注入强地松龙或透明质酸钠,注药后再次测量开口度。结果 不可复关节盘移位开口度及髁突侧向运动度明显增加。合并滑膜炎者疼痛症状减轻。结论 TMJ关节上腔造影结合关节腔冲洗注药及He垫治疗,可明显增加开口度、髁突运动度。减轻关节疼痛。因此,是一种治疗早期不可复性盘前移位的有效方法。 相似文献
10.
A boy with rhizomelic chondrodysplasia punctata, diagnosed on the laboratory evidence of a high plasma concentration of phytanic
acid and a low erythrocyte concentration of plasmalogens, has been followed from birth to the age of 16 years. The clinical
pattern (somatic, skeletal and neurological) tallies with published findings in this disease. Unusual findings are the associated
epilepsy, confirmed by EEG, and the long survival. CT brain scan and MRI showed cortical and subcortical atrophy but not gyral
abnormalities or demyelination.
Sommario Viene descritto il caso di un bambino affetto da condrodisplasia punctata rizomelica seguito dalla nascita fino ai 16 anni. La diagnosi clinica, efettuata in base alle caratteristiche somatiche, scheletriche e neurologiche del paziente è stata confermata dai reperti di laboratorio (alta concentrazione plasmatica di acido fitanico, bassa concentrazione di plasmalogeni eritrocitari). Come correlati inusuali del quadro clinico vanno segnalati l'associazione con epilessia e a la lunga sopravvivenza. La TAC e la RNM cerebrale hannovaltresì documentato atrofia corticale e sottocorticale ma non anomalie della girazione o demielinizzazione.相似文献