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41.
E. Orye Y. Benoit L. Roesbeke M. Van Yper M. De Wilde 《Journal of immunological methods》1983,60(3):369-377
A new bacterial rosette technique for enumerating T lymphocytes is described. E. coli (strain B; ATCC 11303), fixed in formaldehyde after overnight growth in thioglycolate medium, are mixed with washed whole blood cells (100 μl) and after incubation at 4°C, slides are made, stained and counted. The nature of the lymphocytes forming E. coli rosettes was demonstrated by comparing their cytochemical staining characteristics with those of E rosetted lymphocytes, and by mixed E. coli and E, mouse E rosette and Fc receptor tests, and by mixed E. coli rosette tests and anti-Ig staining. E. coli and E rosette tests in controls and pediatric patients were also compared. The results show that Tμ and Tγ cells rosette with E. coli. 相似文献
42.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 总被引:22,自引:1,他引:22
Marsh DJ; Coulon V; Lunetta KL; Rocca-Serra P; Dahia PL; Zheng Z; Liaw D; Caron S; Duboue B; Lin AY; Richardson AL; Bonnetblanc JM; Bressieux JM; Cabarrot-Moreau A; Chompret A; Demange L; Eeles RA; Yahanda AM; Fearon ER; Fricker JP; Gorlin RJ; Hodgson SV; Huson S; Lacombe D; Eng C 《Human molecular genetics》1998,7(3):507-515
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403
amino acid dual specificity phosphatase (protein tyrosine phosphatase;
PTPase), was shown recently to play a broad role in human malignancy.
Somatic PTEN deletions and mutations were observed in sporadic breast,
brain, prostate and kidney cancer cell lines and in several primary tumours
such as endometrial carcinomas, malignant melanoma and thyroid tumours. In
addition, PTEN was identified as the susceptibility gene for two hamartoma
syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or
Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD
families and seven BZS families was screened for germline PTEN mutations.
PTEN mutations were identified in 30 of 37 (81%) CD families, including
missense and nonsense point mutations, deletions, insertions, a
deletion/insertion and splice site mutations. These mutations were
scattered over the entire length of PTEN , with the exception of the first,
fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified
in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD
mutations identified in this exon. Seven of 30 (23%) were within the core
motif, the majority (five of seven) of which were missense mutations,
possibly pointing to the functional significance of this region. Germline
PTEN mutations were identified in four of seven (57%) BZS families studied.
Interestingly, none of these mutations was observed in the PTPase core
motif. It is also worthy of note that a single nonsense point mutation,
R233X, was observed in the germline DNA from two unrelated CD families and
one BZS family. Genotype-phenotype studies were not performed on this small
group of BZS families. However, genotype-phenotype analysis inthe group of
CD families revealed two possible associations worthy of follow-up in
independent analyses. The first was an association noted in the group of CD
families with breast disease. A correlation was observed between the
presence/absence of a PTEN mutation and the type of breast involvement
(unaffected versus benign versus malignant). Specifically and more
directly, an association was also observed between the presence of a PTEN
mutation and malignant breast disease. Secondly, there appeared to be an
interdependent association between mutations upstream and within the PTPase
core motif, the core motif containing the majority of missense mutations,
and the involvement of all major organ systems (central nervous system,
thyroid, breast, skin and gastrointestinal tract). However, these
observations would need to be confirmed by studying a larger number of CD
families.
相似文献
43.
Mahadevaiah SK; Odorisio T; Elliott DJ; Rattigan A; Szot M; Laval SH; Washburn LL; McCarrey JR; Cattanach BM; Lovell-Badge R; Burgoyne PS 《Human molecular genetics》1998,7(4):715-727
An RNA-binding motif (RBM) gene family has been identified on the human Y
chromosome that maps to the same deletion interval as the 'azoospermia
factor' (AZF). We have identified the homologous gene family (Rbm) on the
mouse Y with a view to investigating the proposal that this gene family
plays a role in spermatogenesis. At least 25 and probably >50 copies of
Rbm are present on the mouse Y chromosome short arm located between Sry and
the centromere. As in the human, a role in spermatogenesis is indicated by
a germ cell-specific pattern of expression in the testis, but there are
distinct differences in the pattern of expression between the two species.
Mice carrying the deletion Yd1, that maps to the proximal Y short arm, are
female due to a position effect resulting in non-expression of Sry ;
sex-reversing such mice with an Sry transgene produces males with a high
incidence of abnormal sperm, making this the third deletion interval on the
mouse Y that affects some aspect of spermatogenesis. Most of the copies of
Rbm map to this deletion interval, and the Yd1males have markedly reduced
Rbm expression, suggesting that RBM deficiency may be responsible for, or
contribute to, the abnormal sperm development. In man, deletion of the
functional copies of RBM is associated with meiotic arrest rather than
sperm anomalies; however, the different effects of deletion are consistent
with the differences in expression between the two species.
相似文献
44.
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome 总被引:11,自引:3,他引:11
Picketts DJ; Higgs DR; Bachoo S; Blake DJ; Quarrell OW; Gibbons RJ 《Human molecular genetics》1996,5(12):1899-1907
It was shown recently that mutations of the ATRX gene give rise to a
severe, X-linked form of syndromal mental retardation associated with alpha
thalassaemia (ATR-X syndrome). In this study, we have characterised the
full-length cDNA and predicted structure of the ATRX protein. Comparative
analysis shows that it is an entirely new member of the SNF2 subgroup of a
superfamily of proteins with similar ATPase and helicase domains. ATRX
probably acts as a regulator of gene expression. Definition of its genomic
structure enabled us to identify four novel splicing defects by screening
52 affected individuals. Correlation between these and previously
identified mutations with variations in the ATR-X phenotype provides
insights into the pathophysiology of this disease and the normal role of
the ATRX protein in vivo.
相似文献
45.
J. Bulten P. J. Poddighe J. C. Robben J. H. Gemmink P. C. de Wilde A. G. Hanselaar 《The American journal of pathology》1998,152(2):495-503
The aim of this study was to detect numerical chromosomal aberrations that may be involved in the progression of cervical intraepithelial neoplasia (CIN) toward cervical carcinoma. Therefore, cervical lesions (five CIN 1, seven CIN 2, six CIN 3, six invasive carcinomas, and six normal samples) were studied by in situ hybridization (ISH) on serial 3-microm-thick paraffin tissue sections, using a panel of eight centromeric DNA probes for chromosomes 1, 3, 6, 7, 8, 11, 17, and X. An estimation of the percentage of dysplastic epithelium with abnormal ISH signals per nucleus was made. Chromosome aneusomy could be detected in all persisting and high-grade CIN lesions and invasive carcinomas. In most cases, when one of the chromosomes showed aneusomy then all studied chromosomes showed numerical changes. Interestingly, the abnormal ISH signals were found only in a varying part of the morphologically dysplastic epithelium, the remainder showing no such changes. In aneuploid regions of the CIN 1 lesions the mean chromosome index for all chromosomes was 1.97+/-0.03 with a range of 1.92 to 2.00. The chromosome index ratios of chromosomes 1, 7, and X showed a significant positive correlation with CIN grade (r > or = 0.74; P < or = 0.006). It is concluded that chromosome aneusomy of chromosomes 1, 7, and X may be involved in the progression of CIN lesions. 相似文献
46.
Tudor Kate Maloney Shannon Raja Anam Baer Ruth Blakemore Sarah-Jayne Byford Sarah Crane Catherine Dalgleish Tim De Wilde Katherine Ford Tamsin Greenberg Mark Hinze Verena Lord Liz Radley Lucy Opaleye Emerita Satiro Taylor Laura Ukoumunne Obioha C. Viner Russell Kuyken Willem Montero-Marin Jesus 《Prevention science》2022,23(6):934-953
Prevention Science - There is evidence that universal school-based mindfulness training (SBMT) can have positive effects for young people. However, it is unknown who benefits most from such... 相似文献
47.
OBJECTIVES: The now commonplace wearing of external nasal splints by sportsmen and athletes has never been scientifically evaluated. The present study looks into the effect of isotonic exercise on nasal resistance, and examines whether this effect is altered by the wearing of an external nasal splint. METHODS: Twenty subjects not suffering from rhinitis were tested. Nasal resistance measurements were recorded using an anterior rhinomanometer before and after isotonic exercise with and without an external nasal splint. Pulse and blood pressure were measured before and after exercise. RESULTS: Significant changes were observed in pulse (p < 0.001) and both systolic (p < 0.002) and diastolic (p < 0.001) blood pressure in response to exercise. Significant differences were seen in nasal resistance when the splint was applied (p < 0.001) and after exercise (p < 0.003). No significant difference was observed after exercise when the splint was worn (p = 0.167). CONCLUSIONS: External nasal splints decrease nasal resistance at rest but are of little value during isotonic exercise. 相似文献
48.
Chorvat RJ Bakthavatchalam R Beck JP Gilligan PJ Wilde RG Cocuzza AJ Hobbs FW Cheeseman RS Curry M Rescinito JP Krenitsky P Chidester D Yarem JA Klaczkiewicz JD Hodge CN Aldrich PE Wasserman ZR Fernandez CH Zaczek R Fitzgerald LW Huang SM Shen HL Wong YN Chien BM Arvanitis A 《Journal of medicinal chemistry》1999,42(5):833-848
The synthesis and CRF receptor binding affinities of several new series of N-aryltriazolo- and -imidazopyrimidines and -pyridines are described. These cyclized systems were prepared from appropriately substituted diaminopyrimidines or -pyridines by nitrous acid, orthoester, or acyl halide treatment. Variations of amino (ether) pendants and aromatic substituents have defined the structure-activity relationships of these series and resulted in the identification of a variety of high-affinity agents (Ki's < 10 nM). On the basis of this property and lipophilicity differences, six of these compounds (4d,i,n,x, 8k, 9a) were initially chosen for rat pharmacokinetic (PK) studies. Good oral bioavailability, high plasma levels, and duration of four of these compounds (4d,i,n,x) prompted further PK studies in the dog following both iv and oral routes of administration. Results from this work indicated 4i,x had properties we believe necessary for a potential therapeutic agent, and 4i1 has been selected for further pharmacological studies that will be reported in due course. 相似文献
49.
50.
Vaughan JP Mogedal S Kruse S Lee K Walt G de Wilde K 《Health policy (Amsterdam, Netherlands)》1996,35(3):229-245
From 1948, when WHO was established, the Organisation has relied on the assessed contributions of its member states for its regular budget. However, since the early 1980s the WHO World Health Assembly has had a policy of zero real growth for the regular budget and has had to rely increasingly, therefore, on attracting additional voluntary contributions, called extrabudgetary funds (EBFs). Between 1984-85 and 1992-93 the real value of the EBFs apparently increased by more than 60% and in the 1990-91 biennium expenditure of extrabudgetary funds exceeded the regular budget for the first time. All WHO programmes, except the Assembly and the Executive Board, receive some EBFs. However, three cosponsored and six large regular programmes account for about 70% of these EBFs, mainly for vertically managed programmes in the areas of disease control, health promotion and human reproduction. Eighty percent of all EBFs received by WHO for assisted activities have been contributed by donor governments, with the top 10 countries (in Europe, North America and Japan) contributing about 90% of this total, whereas the UN funds and the World Bank have donated only about 6% of the total to date. By contrast, about 70% of the regular budget expenditure has been for organisational expenses and for the support of programmes in the area of health systems. Despite the fact that the more successful programmes are heavily reliant on EBFs, there are strong indications that donors, particularly donor governments, are reluctant to maintain the current level of funding without major reforms in the leadership and management of the Organisation. This has major implications for WHO's international role as the leading UN specialised agency for health. 相似文献