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排序方式: 共有605条查询结果,搜索用时 15 毫秒
21.
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis 总被引:7,自引:2,他引:7
Li DY; Toland AE; Boak BB; Atkinson DL; Ensing GJ; Morris CA; Keating MT 《Human molecular genetics》1997,6(7):1021-1028
Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular
disease that affects the aorta, carotid, coronary and pulmonary arteries.
Previous molecular genetic data have led to the hypothesis that SVAS
results from mutations in the elastin gene, ELN. In these studies, the
disease phenotype was linked to gross DNA rearrangements (35 and 85 kb
deletions and a translocation) in three SVAS families. However, gross
rearrangements of ELN have not been identified in most cases of autosomal
dominant SVAS. To define the spectrum of ELN mutations responsible for this
disorder, we refined the genomic structure of human ELN and used this
information in mutational analyses. ELN point mutations co-segregate with
the disease in four familial cases and are associated with SVAS in three
sporadic cases. Two of the mutations are nonsense, one is a single base
pair deletion and four are splice site mutations. In one sporadic case, the
mutation arose de novo. These data demonstrate that point mutations of ELN
cause autosomal dominant SVAS.
相似文献
22.
Morphological analysis of degeneration and regeneration of syncytiotrophoblast in first trimester placental villi during organ culture 总被引:3,自引:1,他引:3
We have recently shown using dansyl-L-lysine exclusion studies that the
release of human chorionic gonadotrophin (HCG) in conjunction with L-
lactate dehydrogenase (LDH) from first trimester villi during organ culture
is symptomatic of syncytiotrophoblast degeneration. The purpose of this
study was to examine chorionic villi at the ultrastructural level in order
to determine events occurring during organ culture. The tissue was sampled
after 0, 24, 48 and 120 h in culture and processed for electron microscopy.
In addition to confirming the previously recorded syncytial degeneration,
the electron micrographs showed clearly the generation of a new
syncytiotrophoblast layer. The new layer, derived from differentiating
cytotrophoblast cells, was largely formed by 48 h and was maintained for at
least 120 h in culture. This study demonstrates a model which provides an
opportunity to study the differentiation of cytotrophoblast cells whilst
they retain their anatomical relationships within the villous structure.
相似文献
23.
G Low GJ Irwin G Haddock SV Maroo 《Journal of Medical Imaging and Radiation Oncology》2006,50(3):249-251
The Currarino triad is a complex anomaly consisting of an anorectal malformation, a sacral bone defect and a presacral mass. It was first described in 1981 and since then, approximately 250 cases have been reported. Radiology has an important part to play in the diagnosis of this entity, as the imaging features are characteristic. We report a case of Currarino triad in an infant who presented with intractable constipation and discuss relevant MRI and plain radiography findings. 相似文献
24.
Loss of tumor-promoting activity of unleaded gasoline in N- nitrosodiethylamine-initiated ovariectomized B6C3F1 mouse liver 总被引:1,自引:0,他引:1
Unleaded gasoline (UG) vapor (2056 ppm) increased the incidence of liver
tumors in a chronic bioassay and exhibited tumor-promoting activity in
N-nitrosodiethylamine (DEN)-initiated female mouse liver. Estrogen
inhibited mouse liver tumor development and the hepatocarcinogenic and
tumor-promoting dose of UG produced uterine changes suggestive of estrogen
antagonism. To directly test the hypothesis that UG-induced tumor-promoting
ability is secondary to its interaction with the mouse liver tumor
inhibitor, estrogen, we compared the tumor-promoting ability of UG in
ovariectomized (Ovex) mice with the hepatic tumor-promoting ability of UG
in intact mice. Ovaries were surgically removed at 4 weeks of age. Exposure
to wholly vaporized UG (2018 ppm) under bioassay and tumor-promoting
conditions began at 8 weeks of age. After 4 months of exposure, UG
increased relative liver weight and hepatic microsomal cytochrome P450
pentoxyresourfin-O- dealkylase and ethoxyresorufin-O-deethylase activity to
a similar extent in intact and Ovex mice. Non-focal hepatocyte
proliferation, as measured by the incorporation of bromo-deoxyuridine, was
not changed by UG exposure and was similar in all treatment groups. After 4
months of exposure to DEN-initiated mice, UG significantly increased the
volume fraction of liver occupied by foci (three-fold) as compared to
control intact mice. As expected, volume of foci was elevated in
DEN/Ovex/control mice as compared to DEN/intact/control mice. In DEN/Ovex
mice UG did not significantly increase the focal volume fraction. Thus, the
tumor promoting activity of UG, as demonstrated by increased volume
fraction of liver occupied by hepatic foci in intact mice, is greatly
attenuated in Ovex mice. The volume fraction data in Ovex mice support the
hypothesis that the tumor promoting activity of UG is dependent upon the
interaction of UG with ovarian hormones. These data also indicate that
hepatic microsomal cytochrome P450 PROD and EROD induction, hepatomegaly
and non-focal hepatic LI are not specific markers of hepatic tumor
promoting activity of UG.
相似文献
25.
Zhang GJ; Tsuda H; Adachi I; Fukutomi T; Yamamoto H; Hirohashi S 《Japanese journal of clinical oncology》1997,27(6):371-377
Patients with primary breast carcinoma with one to three axillary lymph
node metastases but without distant metastases (n1-3) in Japan have been
shown to have a 10-year disease-free survival rate of > 60%. It would be
reasonable to divide n1-3 Japanese breast cancer patients into groups with
high- or low-risk for recurrence and to consider post-operative adjuvant
therapy. In the present study, we analyzed 228 consecutive Japanese
patients with n1-3 breast cancer who underwent radical mastectomy and were
followed up for a median time of 11.0 years. The expression of bcl-2, p53
and c-erbB-2 proteins in the primary tumors was examined
immunohistochemically and their prognostic roles were also analyzed along
with conventional clinicopathologic indicators. bcl-2 expression was
correlated with positive estrogen receptor status and inversely correlated
with p53, c-erbB-2 and histologic grade. Univariate analysis showed that
bcl-2, p53 and c-erbB-2 expression were prognostic indicators of the
patient's group as well as node status, histologic grade, tumor size, age
at diagnosis, menopausal status and estrogen receptor status. Cox's
regression analysis demonstrated that the number of nodes involved,
menopausal status, p53 and bcl-2 were independent predictors for overall
survival and that histologic grade and the number of nodes involved were
independent predictors for disease-free survival. These results suggest
that bcl-2 expression in combination with p53 and c-erbB-2 expression, the
number of lymph node metastases, histologic grade and menopausal status are
useful in selecting subgroups of n1-3 breast cancer patients with good or
poor prognoses.
相似文献
26.
Risk factors for deaths in under-age-five children attending a diarrhoea treatment centre 总被引:2,自引:0,他引:2
Few case-control studies have examined possible risk factors for diarrhoeal deaths in under-age-five children in the developing countries. We analysed data from the surveillance system of our diarrhoea treatment centre/hospital for the period 1990-94 on 928 children less than 5 years of age. In univariate analysis, 11 factors were significantly associated with death: lack of breastfeeding, severe malnutrition, complicated diarrhoea, pneumonia, xerophthalmia, duration of diarrhoea 7-14 days, moderate or severe dehydration, recent history of measles, Shigella flexneri infection, maternal illiteracy, and very low household income. Rotavirus diarrhoea was negatively associated with fatal outcome. In the assessment of severe malnutrition, weight-for-height measurement discriminated mortality risk better than weight-for-age or height-for-age indices. Only two factors retained their significance, severe malnutrition and non-breastfeeding in the multivariate analysis with adjusted odds ratio (95% confidence interval) of 84.2 (9.1, 775.9) and 4.2 (1.3, 13.2) respectively. 相似文献
27.
OBJECTIVE: To assess the reactions of parents and their children to the request for a blood sample and an attempt to take blood. METHODS: 1859 children aged 1.5-4.5 years took part in a national survey of diet and nutrition. A retrospective inquiry of the parents' and children's reported reactions was carried out six to 18 months later by postal questionnaire sent only to the 1157 who had given consent for an attempt to take blood. RESULTS: 866 questionnaires were returned; 790 were from parents of children in whom an attempt to take blood had been successful. Thirteen per cent said that their child had given blood previously. About 30% discussed the request with the family doctor or nurse. Some 90% said that they were given enough information and that the phlebotomist was sympathetic. Attempting to take blood caused upset in over 50%, which, in most, lasted for less than five minutes. A substantial minority were upset for up to 30 minutes and a few much longer. Bruising or bleeding occurred in 20-27%. Degree and duration of upset were both adversely associated with a failed attempt to obtain blood. CONCLUSION: The majority of preschool children experienced no more than a little upset of short duration after an attempt to take blood, but a substantial minority exhibited a greater degree of upset. These responses should be taken into account when assessing the benefits and risks of the procedure. The best equipment and expertise should be employed for taking blood as successful attempts are less upsetting. 相似文献
28.
GJ Fuchs P Tienboon S Linpisarn S Nimsakul P Leelapat S Tovanabutra V Tubtong M DeWier RM Suskind 《Archives of disease in childhood》1996,74(3):224-227
Abnormal growth is a common feature of thalassaemia major in children. In an attempt to determine whether it has a nutritional cause, 12 children aged 1 to 3 years with thalassaemia major were studied under metabolic ward conditions. Nutritional status was assessed by anthropometry and biochemistry before and after an intensive nutrition regimen. Five children had wasting or stunting on admission. As a result of the nutrition intervention, mean weight for height improved significantly. The mean height increase of 0.4 cm after one month was not significant. Plasma zinc, depressed in half the children on admission, improved, as did alpha tocopherol, while copper decreased. Plasma insulin-like growth factor-I also increased commensurate with improved growth. Fat absorption was normal in all children. Undernutrition is an important cause of associated growth disturbances in children with thalassaemia major. Malnutrition was primarily caused by inadequate nutrient intake, as indicated by the capacity to gain weight appropriately when provided with nutrition support, and by the absence of intestinal malabsorption. While long term studies are required to determine if nutritional support will prevent stunting, these results underscore its central role in preventing nutritional deficiencies and in promoting normal growth in thalassaemic children. 相似文献
29.
Carlton Auger Alexander Meisels Pierre Ardouin Gilles Kirouac 《Canadian Medical Association journal》1969,101(12):101-103
To permit linkage of computerized patient data obtained from different sources, a universal and efficient method of patient identification is necessary. A coding system of 16 characters with a high degree of discrimination is proposed. The first five characters code the individual's family name, the next four his given name; the next six digits are his date of birth expressed in day, month and year; and the last character codes his sex. This system, using readily available patient information, is simple to manipulate and generates codes that are also medically informative. When this method of identification was tested on a list of 18,000 persons, no identical codes were found. 相似文献
30.
Margreet Zoodsma Rolf H Sijmons Elisabeth GE de Vries Ate GJ van der Zee 《Hereditary cancer in clinical practice》2004,2(2):99-105
We report three Dutch families with familial clustering of (pre)neoplastic cervical disease, review the literature on familial risks of cervical intraepithelial neoplasia (CIN) and cervical cancer, and discuss possible practical guidelines for women with a family history of cervical cancer. Daughters and sisters of women with cervical cancer have been reported to have a relative risk of 1.5-2.3 to develop this type of cancer. From a practical clinical point of view, we suggest that as in women with an increased non-genetic risk to develop cervical cancer (e.g. because of immunosuppressive therapy) increased surveillance to detect this tumour should be considered in women with an increased risk based on family history. Cessation of smoking should be advised. As the use of condoms at least prevents HPV re-infection its use can be recommended as a way to lower the cervical cancer risk. Future studies to determine the genetic contribution to the development of cervical cancer should include the paternal family history of cancer and, because genetic predisposition might express itself as a higher risk to develop precursors of cervical cancer, carcinoma in situ and CIN grade II-III. 相似文献