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排序方式: 共有1335条查询结果,搜索用时 234 毫秒
1.
M. A. Martín J. C. Rubio R. A. Wevers B. G. M. Van Engelen G. C. H. Steenbergen O. P. Van Diggelen M. De Visser C. De Die-Smulders A. Blázquez A. L. Andreu J. Arenas 《Annals of human genetics》2004,68(1):17-22
We report on 8 Dutch patients with McArdle's disease from 6 unrelated families. Molecular analysis revealed the presence of four previously described mutations: the common R49X mutation, the IVS14+1G>A mutation and the recently reported R269X and Y84X nonsense mutations; and two new molecular defects: a missense mutation R138W in the homozygous state in two siblings, and a frameshift mutation c.1797delT. This first genetic study of patients from The Netherlands with McArdle's disease confirms that the R49X mutation is also the most common in Dutch patients, and that there is genetic heterogeneity within this population. Moreover, our data support the hypothesis that the Y84X mutation is a relatively frequent mutation in McArdle's patients with a Central European background, and expand the already crowded map of mutations within the PYGM gene responsible for McArdle's disease. 相似文献
2.
J Arenas J Mayor F J Gella B Fraile B Bornstein M D Jarillo A Martinez I Santos 《Clinical biochemistry》1988,21(1):73-77
A significant increase in urine arylsulfatase A activity (p less than 0.01) was found in patients with urothelial tumors. Arylsulfatase A activity was 1.36 +/- 1.10 U/24-h urine in control specimens, 1.90 +/- 1.66 U/24-h urine in various genitourinary tract disorders, and 3.90 +/- 1.98 U/24-h urine in transitional cell carcinoma specimens. Surgical treatment of the neoplastic patients lowered the arylsulfatase A activity found in urine to within reference values. The arylsulfatase A excreted by patients with these tumors was highly sensitive to thermal inactivation while the enzyme activity in the control urines was less affected by the heat treatment. The time course of the arylsulfatase A reaction with 4-nitrocatechol sulfate was not linear in normal individuals, while it was linear in 90% of patients with urothelial tumors. This difference in the kinetic pattern of the enzyme could be used to increase the diagnostic specificity of the determination. 相似文献
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Carrozzo R Bornstein B Lucioli S Campos Y de la Pena P Petit N Dionisi-Vici C Vilarinho L Rizza T Bertini E Garesse R Santorelli FM Arenas J 《Human mutation》2003,21(4):453-454
Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in the TK2 and DGUOK genes. Three novel mutations were identified in TK2 (R183G, R254X, and 142insG). When we analyzed additional genes involved in the dNTPs pool, such as SLC25A19 (DNC) and NT5M (d-NT2), we did not detect mutations. The current study suggest that scanning the TK2, DGUOK, SLC25A19, and NT5M genes is likely to help about 10% of MDS families in terms of genetic counseling. Also, our findings indicate that genotype-phenotype correlations are not straightforward in MDS. 相似文献
7.
ngela Arenas Massa Marilú Budinich Villouta Carolina Riveros Ferrada 《Health and human rights》2021,23(1):251
This paper analyzes the Inter-American Court of Human Rights’ ruling in the case of Poblete Vilches et al. v. Chile. Poblete Vilches, a senior citizen, died in February 2001 due to septic shock and bilateral bronchopneumonia after being treated in a public hospital in Chile. The ruling held the state of Chile responsible for a number of human rights violations. The paper evaluates the interpretation of the American Convention on Human Rights as carried out by the Inter-American Court of Human Rights. It concludes that the sentence explicitly developed criteria in relation to informed consent as a derivation of the right to health and implicitly recognized, from a gerontological perspective, a manifestation of structural abuse toward older persons and their supportive environments. The gerontological gaze brings new challenges for the development of older persons’ rights. The ruling is unique in the inter-American human rights system, as recognized by the court itself. 相似文献
8.
Elionora Peña Assumpta Caixàs Concepción Arenas Rocio Pareja Josep León-Mengíbar Mercedes Rigla Timothy R. Powell Narcís Cardoner Araceli Rosa 《Surgery for obesity and related diseases》2021,17(1):185-192
BackgroundBariatric surgery is currently the most effective long-term treatment for severe obesity. However, interindividual variation in surgery outcome has been observed, and research suggests a moderating effect of several factors including baseline co-morbidities (e.g., type 2 diabetes [T2D] and genetic factors). No data are currently available on the interaction between T2D and variants in brain derived neurotrophic factor (BDNF) and its effect on weight loss after surgery.ObjectivesTo examine the role of the BDNF Val66Met polymorphism (rs6265) and the influence of T2D and their interaction on weight loss after bariatric surgery in a cohort of patients with severe obesity.SettingUniversity hospital in Spain.MethodsThe present study evaluated a cohort of 158 patients with obesity submitted to bariatric surgery (Roux-en-Y gastric bypass or sleeve gastrectomy) followed up for 24 months (loss to follow-up: 0%). During the postoperative period, percentage of excess body mass index loss (%EBMIL), percentage of excess weight loss (%EWL), and total weight loss (%TWL) were evaluated.ResultsLongitudinal analyses showed a suggestive effect of BDNF genotype on the %EWL (P = .056) and indicated that individuals carrying the methionine (Met) allele may experience a better outcome after bariatric surgery than those with the valine/valine (Val/Val) genotype. We found a negative effect of a T2D diagnosis at baseline on %EBMIL (P = .004). Additionally, we found an interaction between BDNF genotype and T2D on %EWL and %EBMIL (P = .027 and P = .0004, respectively), whereby individuals with the Met allele without T2D displayed a greater %EWL and greater %EBMIL at 12 months and 24 months than their counterparts with T2D or patients with the Val/Val genotype with or without T2D.ConclusionOur data showed an association between the Met variant and greater weight loss after bariatric surgery in patients without T2D. The presence of T2D seems to counteract this positive effect. 相似文献
9.
Daniel López-Padilla Francisco García-Río Adolfo Alonso-Arroyo Nuria Arenas Valls Alicia Cerezo Lajas Marta Corral Blanco Virginia Gallo González Milagros Llanos Flores María Martínez Redondo Natalia Martos Gisbert Elena Ojeda Castillejo Marta Padilla Bernáldez Marta Pérez Gallán Vania Prudencio Ribera Luis Puente Maestu Beatriz Recio Moreno Elena Rodríguez Jimeno Ana Sánchez Azofra José Ignacio de Granda-Orive 《Archivos de bronconeumologia》2021,57(2):146-147
10.
Diana Cardenas MD PhD Gustavo Díaz RD MSc Jessika Cadavid ND MSC Fernando Lipovestky MD Marisa Canicoba RD Paola Sánchez MD Ludwig Álvarez ND Yan Duarte MD José Guillermo Gutiérrez Reyes MD Gilda Miranda de Noyola RD Claudia Maza RD Sergio Santana Porbén MD Charles Elleri Bermúdez MD Yawelida García RN Isabel Calvo RD Humberto Arenas MD 《JPEN. Journal of parenteral and enteral nutrition》2022,46(1):229-237