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71.
72.
A replication study of 19 GWAS-validated type 2 diabetes at-risk variants in the Lebanese population
Wassim Y. Almawi Rita Nemr Sose H. Keleshian Akram Echtay Fabiola Lisa Saldanha Fatima A. AlDoseri Eddie Racoubian 《Diabetes research and clinical practice》2013
Aim
Recent genome-wide association scans (GWAS) and replication studies have expanded the list of validated type 2 diabetes (T2DM) susceptibility loci. We replicated T2DM association of 19 SNPs from 15 candidate loci in Lebanese Arabs.Methods
Case–control association study, comprising 995 T2DM patients and 1076 control participants. We genotyped by the allelic discrimination method 19 SNPs in/near ADAM30, NOTCH2, THADA, TMEFF2, COL8A1, ADAMTS9-AS2, WFS1, JAZF1, SLC30A8, KCNQ1, LOC387761, ALX4, TSPAN8, FTO, and HNF1.Results
Allele frequencies of the tested SNPs were comparable with those of Caucasians. COL8A1 rs792837 (P = 2.9 × 10−9), KCNQ1 rs2237892 (P = 1.8 × 10−18) and rs2237895 (P = 0.002), ALX4 rs729287 (Pc = 7.5 × 10−5), and HNF1 rs4430796 (P = 0.003) were significantly associated with T2DM, with similar effect sizes to those of Europeans. While FTO rs8050136 and rs17817449, ADAMTS9 rs4607103, and WFS1 rs10010131 were initially associated with T2DM, this was lost upon multiple testing correction. The remaining variants were not associated with T2DM, possibly resulting from insufficient power to detect smaller allele effects.Conclusion
In addition to previous findings on the association of IGF2BP2, CDKAL1, TCF7L2 variants with T2DM among Lebanese, here we extend these by validating the association of five additional loci with T2DM in Lebanese Arabs. 相似文献73.
74.
Bouaziz-Borgi L Almawi WY Mtiraoui N Nsiri B Keleshian SH Kreidy R Louzir B Hezard N Mahjoub T 《American journal of hematology》2006,81(8):641-643
Factor V G1691A (FV-Leiden) and prothrombin (PRT) G20210A single nucleotide polymorphisms (SNPs) were associated with venous thrombosis among Caucasians. We assessed the contribution of both SNPs to the genetic susceptibility of deep venous thrombosis (DVT) among Lebanese and Tunisian patients. Subjects comprised 198 DVT patients and 540 healthy controls from Lebanon and 126 Tunisian DVT patients and 197 control subjects; FV-Leiden (MnlI) and PRT G20210A (HindIII) genotyping was done by PCR-RFLP. While the prevalence of FV-Leiden mutant A allele and the G/A and A/A genotypes were significantly higher among DVT patients from Lebanon and Tunisia, the association of PRT G20210A with DVT was pronounced among Lebanese but not Tunisian patients. The prevalence of PRT G20210A mutant A allele (P < 0.001 vs. P = 181) and G/A genotype (P < 0.001 vs. P = 0.994) was significantly higher among Lebanese but not Tunisians, respectively. While FV-Leiden was a common genetic risk factor for DVT in both communities, the contribution of PRT G20210A to the genetic susceptibility of DVT differed among Lebanese and Tunisians, which underscores the need to determine prothrombotic gene polymorphisms associated with DVT among Arab and Mediterranean basin communities. 相似文献
75.
Ghazouani L Abboud N Mtiraoui N Zammiti W Addad F Amin H Almawi WY Mahjoub T 《Journal of thrombosis and thrombolysis》2009,27(2):191-197
Elevation in homocysteine and methylenetetrahydrofolate reductase (MTHFR) gene variants, C677T and A1298C, have been linked
with atherothrombosis. However their exact contribution to coronary artery disease (CAD) remains controversial. Moreover,
data from Tunisian patients are scarse. We examined the association of MTHFR C677T and A1298C, and changes in plasma homocysteine
in 352 Tunisian patients with angiographically-demonstrated CAD, and 390 age and gender-matched healthy subjects. Significantly
higher frequency of 677T allele and homozygous 677T/T genotype were seen in patients vs. control subjects; the distribution
of A1298C alleles and genotypes being comparable in the two groups. Specific MTHFR haplotypes comprising 677C/1298A (P < 0.001) and 677T/1298A (P < 0.001) were negatively and positively associated with CAD, respectively. Plasma homocysteine concentration was significantly
higher in 677T/T genotype with respect to 677C/C and 677C/T genotypes in patients and controls, but homocysteine levels were
generally comparable between both groups. Univariate analysis identified 677T/1298A (P = 0.033) haplotype to be positively associated with CAD, which remained significant by multivariate analysis after adjusting
for a number of covariates (P = 0.038). MTHFR C677T, but not A1298C SNPs, is associated with CAD and with elevated homocysteine levels in a Tunisian population.
The negative and positive association of the 1298A allele with CAD being indicative of a neutral (absent) effect of the A1298C
SNP on disease pathogenesis. 相似文献
76.
Lakhdar Ghazouani Nesrine Abboud Sonia Bel-Hadj Khlifa Claire Perret Viviane Nicaud François Cambien Wassim Y. Almawi Touhami Mahjoub 《Journal of thrombosis and thrombolysis》2009,28(3):314-319
P-selectin plays a key role in inflammation and atherosclerosis, and polymorphic variants of P-selectin were implicated in
the pathogenesis of atherosclerotic and inflammatory changes, including coronary heart disease (CHD) in many ethnic groups.
We investigated the contribution of P-selectin promoter (−2123C/G, −1969G/A) and exon (Ser290Asn, Asn562Asp, Thr715Pro) polymorphisms
to CHD genetic susceptibility among 298 Tunisian CHD patients and 339 controls. Minor allele and genotype frequencies of the
five P-selectin SNPs were comparable between patients and controls, except for −2123G/G genotype which was more frequent in
cases. The 715Pro allele was present at lower frequency in Tunisians than in Europeans, and was not protective of CHD. Linkage
disequilibrium was seen between −1969G/A, and both Ser290Asn and Asn562Asp. Five-loci haplotype analysis did not identify
any CHD-protective or CHD-susceptible haplotypes. To our knowledge, this was the first case-control study to be performed
on an Arab/North-African population, and demonstrates that none of the five P-selectin polymorphisms investigated influence
CHD susceptibility in Tunisian Arabs. 相似文献
77.
Abeer M. Al‐Subaie Naglaa A. Fawaz Najat Mahdi Iman K. Al‐Absi Khadija Al‐Ola Ghada Ameen Wassim Y. Almawi 《European journal of haematology》2009,83(6):579-585
Objectives: Vaso‐occlusive crisis (VOC) is a significant cause of morbidity and mortality in sickle cell anemia (SCA) patients. Insofar as polymorphism in human platelet alloantigen (HPA) exhibit a prothrombotic nature, we hypothesized that specific HPA polymorphic variants are associated with VOC. We investigated the distribution of HPA1, HPA2, HPA3, HPA4, and HPA5 alleles genotypes among VOC and non‐VOC control SCA patients. Patients/methods: This was a case–control study. Study subjects comprised SCA patients with (VOC group; n = 127) or without (Steady‐state group; n = 130) VOC events. HPA genotyping was done by PCR‐SSP. Results: Significantly higher frequencies of HPA‐2b, HPA‐3b, and HPA‐5b alleles, and marked enrichment of HPA‐3b/3b, HPA‐5a/5b, and HPA‐5b/5b genotypes, were seen in VOC than in control SCA patients. Taking homozygous wild‐type genotypes as reference, univariate analysis identified HPA‐3a/3b, HPA‐3b/3b, and HPA‐5b/5b to be associated with VOC. Multivariate analysis confirmed the independent association of only HPA‐3a/3b and HPA‐3b/3b genotypes with VOC. HPA‐3 genotypes were significantly correlated with VOC frequency, type, and medication, and requirement for hospitalization. While both HPA 3a/3b (P = 0.002; OR = 2.94; 95% CI = 1.49–5.77) and 3b/3b (P = 0.006; OR = 3.16; 95% CI = 1.40–7.17) genotypes were associated with need for hospitalization, only HPA‐3b/3b was associated with VOC frequency, type (localized vs. generalized), and medication (narcotics vs. NSAIDs). Conclusion: This confirms the association of HPA polymorphisms with SCA VOC, of which HPA‐3 appears to be independent genetic risk factors for SCA VOC. 相似文献
78.
79.
Almawi WY Abou-Jaoude MM Tamim H Al-Harbi EM Finan RR Wakim-Ghorayeb SF Motala AA 《Transplantation proceedings》2004,36(6):1844-1846
The genetic relationship between Bahraini and Lebanese Arabs in terms of HLA class II (DRB1 and DQB1) gene and haplotype frequencies was investigated in a group of 90 Lebanese and 52 Bahraini Arabs. Subjects of both sexes were unrelated and HLA-DRB1 and DQB1 genes were genotyped using the polymerase chain reaction-sequence specific primer (PCR-SSP) technique. Analysis of the HLA-DRB1 alleles showed that the DRB1*040101 and DRB1*110101 alleles were more common among Lebanese, whereas DRB1*030101, DRB1*130701/1327, and DRB1*160101 alleles were more common among Bahrainis. Similarly, of the 7 HLA-DQB1 alleles analyzed, the presence of DQB1*0201 was higher among Bahrainis, whereas DQB1*030101 was higher among Lebanese. The DRB1*160101-DQB1*050101 (23.08%) and DRB1*030101-DQB1*0201 (21.15%) haplotypes were more frequent among Bahrainis, while the DRB1*110101-DQB1*030101 (56.67%), DRB1*040101-DQB1*0302 (28.89%) and DRB1*040101/DQB1*030101 (25.56%) haplotypes were more frequent in Lebanese subjects. Our results underline significant differences between these two populations in HLA class II distribution, and provide basic information for further studies of MHC heterogeneity among Arab-speaking countries, and as a reference for further anthropologic studies. 相似文献
80.
Isozumi K; DeLong R; Kaplan J; Deng HX; Iqbal Z; Hung WY; Wilhelmsen KC; Hentati A; Pericak-Vance MA; Siddique T 《Human molecular genetics》1996,5(9):1377-1382
Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders
which are characterized by weakness in the distribution of shoulder girdle
and peroneal muscles. SP syndromes can resemble facioscapulohumeral
muscular dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth
disease (CMT) due to atrophy of peroneal muscles. Both neurogenic and
myopathic SP syndromes have been described. Locus for the myopathic form of
SP syndrome (scapuloperoneal muscular dystrophy, SPMD) has recently been
assigned to chromosome 12q. We previously described a large New England
kindred exhibiting an autosomal dominant neurogenic SP syndrome
(scapuloperoneal spinal muscular atrophy, SPSMA). Disease expression was
more severe and progressive in successive generations, which suggested
genetic anticipation. We performed genetic linkage analysis of this family
with microsatellite markers and excluded the loci for FSH, CMT, SPMD and
SMA (spinal muscular atrophy) in our family. Linkage in our SPSMA family
(lod score > 3) was established to seven microsatellite markers that map
to chromosome 12q24.1-q24.31. The highest lod score with two-point linkage
analysis was 6.67 (theta = 0.00) with marker D12S353. Multipoint analysis
gave maximum lod scores of 7.38 between D12S354 and D12S79, and also 7.38
between D12S369 and NOS1 (neuronal nitric oxide synthase). The gene for
SPSMA lies within the 19 cM interval between D12S338 and D12S366. This
report establishes a locus for the neurogenic form of SP syndrome
approximately 20 cM telomeric to the one described for the myopathic form
of SP syndrome.
相似文献