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91.
Mai Kelany John S. Pickersgill Namir Al Hasso Adie Viljoen Nancy van Bijlen 《Hemoglobin》2016,40(5):345-348
We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T?>?A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A1c testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband. 相似文献
92.
《Hemoglobin》2013,37(6):389-392
AbstractThalassemia is one of the most common autosomal recessive blood disorders in the world. It shows a variety of clinical expression, starting from asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the β-globin region. Moreover, most geographical regions have their own characteristics, frequency and availability of these alleles, predominantly circulating within the communities present in that particular region. In this study, we explored the spectrum of β-thalassemia (β-thal) alleles present in Chittagong, Southeast Bangladesh. This study comprises β-thal and Hb E (HBB: c.79?G?>?A) patients from in and around the area of Chittagong. Not only exploring the complete β-globin mutation spectrum of the area, but we also tried to look at the origin of the mutated alleles. The β-thal mutations of Bangladesh show a relatively wide spectrum of alleles, which further demonstrates the heterogeneity of the disease in this country. Although our study showed that the majority of the mutations have their origin in neighboring countries such as India, countries of Southeast Asia, Pakistan, etc., some unusual alleles do not originate in neighboring countries and put a little more diversity in the overall spectrum of β-thal-specific alleles. Overall, this study demonstrates the mutation spectrum related to β-thal in Chittagong, Southeast Bangladesh. 相似文献
93.
94.
糖尿病目前已被国际社会列为人类健康头号杀手的非传染性疾病。血糖的检测在糖尿病的诊断、治疗及预防急性和慢性并发症中尤为重要。糖化血红蛋白(glycatedhemoglobin Alc,HbAlc)是反映既往2~3个月平均血糖水平的指标,用于评估长期血糖控制状况。目前HbAlc检测已经被推荐作为糖尿病诊断试验。现对HbAlC的检测方法及其临床意义作一综述。 相似文献
95.
Michael W. Kent Jennifer L. Oliveira James D. Hoyer Kenneth C. Swanson Michelle L. Kluge D. Brian Dawson 《Hemoglobin》2014,38(1):8-12
Hyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and β chains, or both chains of the hemoglobin (Hb) molecule. We describe two Hispanic adolescents with a new unstable Hb variant (HBB: c.348_349delinsG; p.His117IlefsX42), resulting from a frameshift mutation at codons 115/116 of the β-globin gene. Both patients also have a 3.7?kb deletion on one α gene, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants. 相似文献
96.
目的 探讨急性冠脉综合征(ACS)患者糖化血红蛋白水平情况及其对ACS患者预后的影响.方法 将102例急性冠脉综合征患者根据糖化血红蛋白水平分为糖化血红蛋白正常组(A组)(HbAlc<6.5%,n=31例)、糖化血红蛋白低危组(B组)(6.5%<HbAlc<7.5%,n=36例)、糖化血红蛋白高危组(C组)(HbAlc>7.5%,n=35例)3组,分别观察各组入院时、3个月后12个月后的极低密度脂蛋白(VLDL)、C反应蛋白(CRP)、体重指数(BMI)、射血分数(EF)及相关心血管不良事件,如心绞痛、严重心律失常、再发心肌梗死、肺部感染等并发症发生情况.结果 ①A、B组及C组患者入院时VLDL、CRP、BMI及EF值差异无统计学意义(P>0.05),而3个月后及12个月后C组EF值较入院时未明显改善(P>0.05);②住院及随访12个月期间C组心血管不良事件心绞痛发生率、肺部感染发生率及死亡率较人院时明显增高(P<0.05).且HbAlc与心绞痛、严重心律失常、再发心肌梗死、肺部感染及死亡均呈正相关(r=0.412、0.271、0.319、0.251、0.134).结论 糖化血红蛋白异常可不同程度地升高急性冠脉综合征患者心血管不良事件的发生率. 相似文献
97.
《Hemoglobin》2013,37(2):91-106
This review brings some new insights on erythrocytosis of genetic origin related to problems of oxygen delivery by hemoglobin (Hb). A few molecular mechanisms are individualized among the about 100 Hb variants that cause compensatory erythrocytosis. The most frequently observed structural modifications are localized in the α1β2 interface, or at the C-terminal. They impair formation of a stable T state. Others mutations modify directly or indirectly the surrounding of the heme and the site where oxygen binds. A special interest is brought to the dose effect considering the possibility for formation of hybrid tetramers with altered oxygen binding properties. Homozygous cases, and patients who are compound heterozygotes for a high oxygen affinity Hb and a thalassemia (thal), are discussed. Several examples are provided, specially documented for Hb Olympia [β20(B2)Val→Met] and Hb Saint Nazaire [β103(G5)Phe→Ile]. Other mechanisms leading to erythrocytosis are discussed, and finally, an algorithm is proposed for etiological diagnosis. 相似文献
98.
99.
We have identified four Chinese individuals from three unrelated families with raised Hb A2 levels. The anti-Lepore hybrid hemoglobin (Hb) variant was amplified using a pair of primers, 5′ to the β-globin gene Cap site and 3′ to the δ-globin gene polyadenylation site (polyA) region, respectively. Direct sequencing of the βδ fusion products confirmed the anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) variant. We found that this anti-Lepore variant is positioned in zone 3 on the capillary electrophoresis system. It may help in differential diagnosis of Hb variants and providing better information in clinical counseling. 相似文献
100.
目的了解北海地区新生儿地中海贫血的发病率,为临床诊断及预防提供依据。方法对本院2006年7月~2010年6月共5766份新生儿脐血标本进行琼脂糖电泳,并对Hb区带进行扫描定量分析。结果在5766份脐血标本中,检出Hb Bart阳性(≥1.0%)437例,阳性率为7.579%。根据Hb Bart含量推算,静止型、标准型α-地中海贫血、HbH病、HbBart胎儿水肿综合征的阳性率分别为2.099%、5.376%、0.087%和0.017%。另外发现异常血红蛋白病共17例,发生率为0.295%,其中HbE11例,HbG2例,HbC-S1例,HbJ 2例,HbK1例。结论北海市属于地中海贫血高发区,使用全自动电泳仪对脐血定量检测分析能早期、方便地对新生儿α-地中海贫血进行筛查。 相似文献