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排序方式: 共有611条查询结果,搜索用时 15 毫秒
1.
Paediatric dacryocystorhinostomy 总被引:1,自引:0,他引:1
KN Hakin FRCS FRCOphth TJ Sullivan FRACO FRACS A Sharma FCOphth † RAN Welham FRCS FCOphth † 《Clinical & experimental ophthalmology》1994,22(4):231-235
Of 258 cases of dacryocystorhinostomy performed on children in the period September 1981 to September 1991, 130 were for simple, unresolved congenital nasolacrimal duct obstruction. Other indications for surgery included punctal agenesis, lacrimal fistula, post-traumatic and post-inflammatory canalicular obstruction. Of 177 children without canalicular pathology, 171 (96%) were relieved of symptoms with one operation, without canalicular intubation. Of 81 cases with canalicular disease, 55 of 70 (79%) who underwent DCR plus canalicular intubation, and 10 of 11 who underwent DCR plus Lester-Jones tube, were substantially improved with one operation. No child required peroperative or postoperative blood transfusion. Dacryocystorhinostomy in childhood, in experienced surgical hands, is a safe procedure, achieving relief of symptoms in most cases, particularly in the absence of canalicular disease. 相似文献
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Predominance of null mutations in ataxia-telangiectasia 总被引:15,自引:4,他引:15
Gilad S; Khosravi R; Shkedy D; Uziel T; Ziv Y; Savitsky K; Rotman G; Smith S; Chessa L; Jorgensen TJ; Harnik R; Frydman M; Sanal O; Portnoi S; Goldwicz Z; Jaspers NG; Gatti RA; Lenoir G; Lavin MF; Tatsumi K; Wegner RD; Shiloh Y; Bar-Shira A 《Human molecular genetics》1996,5(4):433-439
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving
cerebellar degeneration, immunodeficiency, chromosomal instability,
radiosensitivity and cancer predisposition. The responsible gene, ATM, was
recently identified by positional cloning and found to encode a putative
350 kDa protein with a Pl 3-kinase-like domain, presumably involved in
mediating cell cycle arrest in response to radiation-induced DNA damage.
The nature and location of A-T mutations should provide insight into the
function of the ATM protein and the molecular basis of this pleiotropic
disease. Of 44 A-T mutations identified by us to date, 39 (89%) are
expected to inactivate the ATM protein by truncating it, by abolishing
correct initiation or termination of translation, or by deleting large
segments. Additional mutations are four smaller in-frame deletions and
insertions, and one substitution of a highly conserved amino acid at the Pl
3-kinase domain. The emerging profile of mutations causing A-T is thus
dominated by those expected to completely inactivate the ATM protein. ATM
mutations with milder effects may result in phenotypes related, but not
identical, to A-T.
相似文献
7.
TJ Cole 《Archives of disease in childhood》1997,76(1):47-49
AIM: To provide a simple method for assessing centile change based on the British 1990 growth reference. STATISTICAL METHOD: The change in SD score over a period of time has SD square root of 2(1-r), where r is the correlation between the first and second SD score. This leads to an SD score for centile change. DATA: Annual height measurements from 2 to 9 years for 318 children from the French longitudinal growth study. RESULTS: The correlations between heights at different ages are higher for shorter measurement intervals and at older ages. The chance of a child's height centile falling one centile band width is correspondingly smaller for shorter measurement intervals and at older ages. An increase in height measurement error reduces the correlations and dramatically increases the chances of centile crossing. CONCLUSIONS: Quantitative height monitoring based on centile change is provided for whole year periods between 2 and 9 years of age. Effective monitoring requires the measurement error to be as small as possible. 相似文献
8.
L Patel PE Clayton ME Jenney JE Ferguson TJ David 《Archives of disease in childhood》1997,76(6):505-508
Cross sectional studies have reported impaired growth in children with atopic dermatitis. If this growth impairment is irreversible, it would be expected to adversely influence final height attainment. The standing heights and other anthropometric parameters were assessed in 35 adults with onset of atopic dermatitis before 5 years of age and a control group of 35 adults with adult onset contact dermatitis or psoriasis. There was no significant difference in the standing height SD score, mid-parental height SD score, sitting height SD score, subischial leg length SD score, nor body mass index between the atopic dermatitis and control groups. The standing height SD score was not significantly different among: (a) patients with atopic dermatitis affecting less than 50% of their body surface area and those with greater than 50% affected; (b) patients using the four different potency topical corticosteroids; and (c) patients with atopic dermatitis without asthma and those with coexisting asthma. It is concluded that short stature is not a feature of our group of adult patients with onset of atopic dermatitis before 5 years of age, continuing into adulthood, and severe enough to require specialist care. This suggests that if growth impairment occurs in childhood, it is likely to be temporary and reversible. 相似文献
9.
OBJECTIVES: To study the efficacy of otoacoustic emissions (OAEs) as a screening test for hearing impairment in children with acute bacterial meningitis. Hearing tests were performed before discharge from the hospital in an attempt to improve coverage and avoid delays in the diagnosis of postmeningitic hearing loss. METHODS: Children with bacterial meningitis were recruited from 21 centers. In the 48 hours before discharge from the hospital, all patients underwent a thorough audiologic assessment consisting of transient evoked OAEs, auditory brainstem responses (ABRs), otoscopy, and tympanometry. Hearing loss was defined as ABR threshold >/=30 dB. The results of OAE screening were compared with the gold standard of ABR threshold. RESULTS: Of 124 children recruited, we were able to perform both OAEs and ABRs on 110 children. Seven (6.3%) of the 110 children had ABR threshold >/=30 dB; 2 had sensorineural hearing loss and 5 had conductive hearing loss. At follow-up, hearing loss persisted in both cases of sensorineural hearing loss and no new cases were identified. All 7 children with hearing loss failed the OAE screening test. Ninety-four children with normal hearing thresholds passed the test, and 9 failed. Thus, the screening test had a sensitivity of 1.00 (95% confidence interval, 0.59 to 1.00), a specificity of 0.91 (0.85 to 0.97), a positive predictive value of 0. 44 (0.20 to 0.70), and a negative predictive value of 1.00 (0.96 to 1.00). CONCLUSIONS: OAE screening in children recovering from meningitis was found to be feasible and effective. The test was highly sensitive and reasonably specific. Inpatient OAE screening should allow early diagnosis of postmeningitic hearing loss and prompt auditory rehabilitation. 相似文献
10.
Characterization of xenobiotic-metabolizing enzymes and nitrosamine metabolism in the human esophagus 总被引:5,自引:2,他引:5
Smith TJ; Liao A; Wang LD; Yang GY; Starcic S; Philbert MA; Yang CS 《Carcinogenesis》1998,19(4):667-672
Esophageal cancer has been associated with tobacco smoking, and
nitrosamines are possible causative agents for this cancer. The present
study investigated the metabolism of the tobacco carcinogens N'-
nitrosonornicotine (NNN), 4-(methylnitrosamino)-1-(3-pyridyl)-1- butanone
(NNK), and N-nitrosodimethylamine (NDMA), as well as the presence of
xenobiotic-metabolizing enzymes in human esophageal tissues from
individuals in the United States and Huixian, Henan Province, China (a
high-risk area for esophageal cancer). All esophageal microsomal samples
activated NNN and the metabolic rate was 2-fold higher in the esophageal
samples from China than the USA. All microsomal samples activated NDMA.
However, most of the microsomal samples did not activate NNK.
Troleandomycin (an inhibitor of cytochrome P450 3A) decreased the formation
of NNN-derived keto acid by 20-26% in the esophageal microsomes. The
activities for NADPH: cytochrome c reductase, ethoxycoumarin O-deethylase,
NAD(P)H: quinone oxidoreductase and glutathione S-transferase were present
in the esophageal samples. Coumarin 7-hydroxylase (a representative
activity for P450 2A6) activity was not detected in the esophageal
microsomal samples. The activities for nitrosamine metabolism and
xenobiotic- metabolizing enzymes were decreased (by 30-50%) in the squamous
cell carcinomas compared with their corresponding non-cancerous mucosa. The
presence of activation and detoxification enzymes in the esophagus may play
an important role in determining the susceptibility of the esophagus to the
carcinogenic effect of nitrosamines. Our results suggest that P450s 3A4 and
2E1 are involved in the activation of NNN and NDMA, respectively, in the
human esophagus.
相似文献