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91.
92.
Damien G Harkin Andrew J Apel Nick Di Girolamo Stephanie Watson Karl Brown Mark D Daniell J Jane McGhee Charles NJ McGhee 《Clinical & experimental ophthalmology》2013,41(3):272-281
Cultured limbal tissue transplants have become widely used over the last decade as a treatment for limbal stem cell deficiency (LSCD). While the number of patients afflicted with LSCD in Australia and New Zealand is considered to be relatively low, the impact of this disease on quality of life is so severe that the potential efficacy of cultured transplants has necessitated investigation. We presently review the basic biology and experimental strategies associated with the use of cultured limbal tissue transplants in Australia and New Zealand. In doing so, we aim to encourage informed discussion on the issues required to advance the use of cultured limbal transplants in Australia and New Zealand. Moreover, we propose that a collaborative network could be established to maintain access to the technology in conjunction with a number of other existing and emerging treatments for eye diseases. 相似文献
93.
van Heel DA McGovern DP Cardon LR Dechairo BM Lench NJ Carey AH Jewell DP 《American journal of medical genetics》2002,111(3):253-259
Crohn disease (CD) is a chronic relapsing inflammatory condition of the gastrointestinal tract. Recently, polymorphisms in NOD2 (CARD15), a gene mapping to the chromosome 16 IBD1 susceptibility locus, have been associated with susceptibility to CD. One group identified the gene by using classic positional cloning methods. Here, we report linkage and fine mapping analyses using 27 microsatellite markers encompassing the IBD1 susceptibility locus in 131 CD affected sibling pairs, and a simplex family cohort. No evidence for linkage was observed, and microsatellite markers close to NOD2 did not show association. However, significant association was confirmed in 294 CD trios for the NOD2 variants Arg702Trp and Leu1007fsinsC. Our fine mapping study of the IBD1 locus did not enable us to identify NOD2 as a CD gene, despite the presence of association with disease-causing alleles. This study illustrates the difficulties facing microsatellite linkage and linkage disequilibrium mapping methods for identifying disease genes in complex traits. 相似文献
94.
Denoyelle F; Weil D; Maw MA; Wilcox SA; Lench NJ; Allen-Powell DR; Osborn AH; Dahl HH; Middleton A; Houseman MJ; Dode C; Marlin S; Boulila-ElGaied A; Grati M; Ayadi H; BenArab S; Bitoun P; Lina-Granade G; Godet J; Mustapha M; Loiselet J; El-Zir E; Aubois A; Joannard A; Petit C 《Human molecular genetics》1997,6(12):2173-2177
Prelingual non-syndromic (isolated) deafness is the most frequent
hereditary sensory defect. In >80% of the cases, the mode of
transmission is autosomal recessive. To date, 14 loci have been identified
for the recessive forms (DFNB loci). For two of them, DFNB1 and DFNB2, the
genes responsible have been characterized; they encode connexin 26 and
myosin VIIA, respectively. In order to evaluate the extent to which the
connexin 26 gene (Cx26) contributes to prelingual deafness, we searched for
mutations in this gene in 65 affected Caucasian families originating from
various countries, mainly tunisia, France, New Zealand and the UK. Six of
these families are consanguineous, and deafness was shown to be linked to
the DFNB1 locus, 10 are small non consanguineous families in which the
segregation of the trait has been found to be compatible with the
involvement of DFNB1, and in the remaining 49 families no linkage analysis
has been performed. A total of 62 mutant alleles in 39 families were
identified. Therefore, mutations in Cx26 represent a major cause of
recessively inherited prelingual deafness since according to the present
results they would underlie approximately half of the cases. In addition,
one specific mutation, 30delG, accounts for the majority (approximately
70%) of the Cx26 mutant alleles. It is therefore one of the most frequent
disease mutations so far identified. Several lines of evidence indicate
that the high prevalence of the 30delG mutation arises from a mutation hot
spot rather than from a founder effect. Genetic counseling for prelingual
deafness has been so far considerably impaired by the difficulty in
distinguishing genetic and non genetic deafness in families presenting with
a single deaf child. Based on the results presented here, the development
of a simple molecular test could be designed which should be of
considerable help.
相似文献
95.
ETD Hoey D Gopalan V Ganesh SKB Agrawal NJ Screaton 《Journal of Medical Imaging and Radiation Oncology》2009,53(3):261-270
Atrial septal defects are associated with significant morbidity and mortality. Echocardiography is the first‐line imaging modality, but MR and CT imaging can provide complimentary information, especially for the detection of associated anomalies and for assessing changes in the pulmonary vasculature. The aim of this pictorial essay is to review the spectrum of atrial septal defects, with particular reference to their cross‐sectional imaging appearances and issues pertaining to management. 相似文献
96.
Objectives Injectable poly‐l ‐lactic acid (PLLA; Sculptra®) is widely used throughout Europe and the USA to restore volume in depressed areas of the face by stimulating neocollagenesis. Injectable PLLA was previously marketed as New‐Fill™, which was often injected incorrectly and at too high a concentration, resulting in some physicians losing confidence in this product. Today, Sculptra® is still regarded with a degree of scepticism by some physicians, due to direct or indirect experience with New‐Fill. Sculptra®, both in formulation and use, is vastly superior to New‐Fill and clinical experience with this product dispels the myths associated with the earlier types of injectable PLLA. Results PLLA is a very safe, biodegradable compound that has been used in a wide range of medical devices for the last 30 years. In injectable form a good safety profile has been proven; however, when the device is overconcentrated, localized overstimulation of the fibroblasts can result in the formation of small lumps (subcutaneous papules), which are non‐pathological but nevertheless palpable by the patient. Physicians must also be trained in the injection of this device, as incorrect injection technique can cause device‐related adverse events. Conclusion New product guidelines have ensured that problems with PLLA concentration have been countered, and tried and tested injection techniques have been shown to ameliorate device‐related adverse events, both of which are dispelling the myths associated with modern injectable PLLA. 相似文献
97.
98.
Jay TR, Heald KA, Carless NJ, Topham DE, Downing R. The distribution of porcine pancreatic beta-cells at ages 5, 12 and 24 weeks. Xenotransplantation 1999; 6: 131-140. ©Munksgaard, Copenhagen Islet transplantation is a potential treatment for diabetes mellitus and porcine pancreata may provide a readily available source of islets. The size, number and distribution of islets within the pancreas may influence the choice of age of donor for xenotransplantation. Samples (n = 3 per age group) from the dorsal and ventral pancreas of 5-, 12- and 24-week-old hybrid pigs were fixed in formal saline, processed in paraffin wax and stained with an avidin/biotin immunohistochemical kit for insulin, glucagon, somatostatin and pancreatic polypeptide. The arrangement of endocrine cells within the pancreata were studied and mean diameter of β-cell groups were measured (from insulin stained sections) in 1 mm2 grid areas (n = 10 per section) and collated into groups according to size. Percentage volume density of β-cells in relation to the whole pancreas was calculated and also the distribution of β-cell groups, according to their size, within the total β-cell mass. There were differences in the frequency and arrangement of endocrine cells within islets at the different ages studied. β-Cell groups < 50 µm in diameter occupied 70 to 80% of the total β-cell mass at 5 weeks but, as the age of the pig increased, larger cell groups were more abundant. However, the percentage volume density of β-cells within the total pancreas did not change as the pancreas matured.This study shows that the endocrine porcine pancreas was maturing and its structure changed between the ages of 5 and 24 weeks. The relevance of these findings may have implications on the isolation and function of islets if young pigs are to be used as donors for transplantation as a treatment for diabetes mellitus. 相似文献
99.
100.
Peroneus longus and brevis tendon tears: MR imaging evaluation 总被引:4,自引:0,他引:4