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1.
María Cabrerizo Gloria Trallero María José Pena Amaia Cilla Gregoria Megias Carmen Mu?oz-Almagro Eva Del Amo Diana Roda Ana Isabel Mensalvas Antonio Moreno-Docón Juan García-Costa Nuria Rabella Manuel Ome?aca María Pilar Romero Sara Sanbonmatsu-Gámez Mercedes Pérez-Ruiz María José Santos-Mu?oz Cristina Calvo And the study group of “Enterovirus parechovirus infections in children under ?years-old Spain” PI- 《European journal of pediatrics》2015,174(11):1511-1516
2.
M. Montes D. Vicente O. Esnal G. Cilla E. Pérez-Trallero 《Clinical microbiology and infection》2008,14(1):91-93
Human metapneumovirus (hMPV) genotypes A and B show epidemiological and probably clinical differences. This report describes a fast and simple PCR–restriction fragment length polymorphism (PCR-RFLP) assay, involving digestion of the fusion protein gene with Tsp 509I, that allows lineages A1, A2, B1 and B2 to be distinguished. The assay should help in elucidating the epidemiology of hMPV, and possibly in predicting the severity of clinical infection. 相似文献
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Screening for mutations in candidate genes for hypospadias 总被引:2,自引:0,他引:2
Nordenskjöld A Friedman E Tapper-Persson M Söderhäll C Leviav A Svensson J Anvret M 《Urological research》1999,27(1):49-55
Hypospadias, a condition with a frontally placed urethral orifice on the penis, is the most common malformation in males.
During fetal development several components are necessary for normal male genital development. Testosterone and dihydrotestosterone
act via the androgen receptor but a defective receptor function results in different degrees of genital malformations. Testosterone-5α-reductase
converts testosterone to dihydrotestosterone, which is crucial for normal differentiation, and a total lack of this enzyme
results, in syndromes with hypospadias. The Wilms' tumour 1 (WT1) gene is expressed in the fetal gonad and genital malformations
can occur due to WT1 gene mutations. These genes are therefore strong candidate genes for hypospadias. We have analysed 35
boys with hypopadias and one girl diagnosed as with complete androgen insensitivity syndrome, using exon by exon polymerace
chain reaction (PCR) amplification of the AR, WT1 and 5α-reductase genes and screened for point mutations and performed subsequent
DNA sequencing. No mutations in any of these genes were found in the 26 patients with isolated hypospadias. Two patients with
severe hypospadias with cryptorchidism were found to carry mutations in the androgen receptor gene. Also the girl with clinically
diagnosed complete androgen insensitivity was found to be homozygous for a splice mutation in the 5α-reductase gene. In summary,
mutations in the WT1, AR and 5α-reductase genes are not common causes of isolated hypospadias.
Received: 1 October 1997 / Accepted: 4 May 1998 相似文献
5.
Federica Medici Stefania Rizzo Milly Buwenge Alessandra Arcelli Martina Ferioli Gabriella Macchia Francesco Deodato Savino Cilla Pierandrea De Iaco Anna Myriam Perrone Silvia Strolin Lidia Strigari Gloria Ravegnini Alberto Bazzocchi Alessio G. Morganti 《Current oncology (Toronto, Ont.)》2022,29(11):8513
Sarcopenia (SP) is a syndrome characterized by age-associated loss of skeletal muscle mass and function. SP worsens both acute and late radiation-induced toxicity, prognosis, and quality of life. Myosteatosis is a pathological infiltration of muscle tissue by adipose tissue which often precedes SP and has a proven correlation with prognosis in cancer patients. Sarcopenic obesity is considered a “hidden form” of SP (due to large fat mass) and is independently related to higher mortality and worse complications after surgery and systemic treatments with worse prognostic impact compared to SP alone. The evaluation of SP is commonly based on CT images at the level of the middle of the third lumbar vertebra. On this scan, all muscle structures are contoured and then the outlined surface area is calculated. Several studies reported a negative impact of SP on overall survival in patients undergoing RT for tumors of the head and neck, esophagus, rectum, pancreas, cervix, and lung. Furthermore, several appetite-reducing side effects of RT, along with more complex radiation-induced mechanisms, can lead to SP through, but not limited to, reduced nutrition. In particular, in pediatric patients, total body irradiation was associated with the onset of SP and other changes in body composition leading to an increased risk of cardiometabolic morbidity in surviving adults. Finally, some preliminary studies showed the possibility of effectively treating SP and preventing the worsening of SP during RT. Future studies should be able to provide information on how to prevent and manage SP before, during, or after RT, in both adult and pediatric patients. 相似文献
6.
Is two days of intermittent energy restriction per week a feasible weight loss approach in obese males? A randomised pilot study 下载免费PDF全文
Marguerite Conley Lauren Le Fevre Cilla Haywood Joseph Proietto 《Nutrition & Dietetics》2018,75(1):65-72
Aim
The 5:2 diet (two non‐consecutive days of 2460 KJ (600 calories) and 5 days of ad libitum eating per week) is becoming increasingly popular. This pilot study aimed to determine whether the 5:2 diet can achieve ≥5% weight loss and greater improvements in weight and biochemical markers than a standard energy‐restricted diet (SERD) in obese male war veterans.Methods
A total of 24 participants were randomised to consume either the 5:2 diet or a SERD (2050 KJ (500 calorie) reduction per day) for 6 months. Weight, waist circumference (WC), fasting blood glucose, blood lipids, blood pressure and dietary intake were measured at baseline, 3 and 6 months by a blinded investigator.Results
After 6 months, participants in both groups significantly reduced body weight (P = <0.001), WC (P = <0.001) and systolic blood pressure (P = 0.001). Mean weight loss was 5.3 ± 3.0 kg (5.5 ± 3.2%) for the 5:2 group and 5.5 ± 4.3 kg (5.4 ± 4.2%) for the SERD group. Mean WC reduction for the 5:2 group was 8.0 ± 4.5 and 6.4 ± 5.8 cm for the SERD group. There was no significant difference in the amount of weight loss or WC reduction between diet groups. There was no significant change in diastolic blood pressure, fasting blood glucose or blood lipids in either dietary group.Conclusions
Results suggest that the 5:2 diet is a successful but not superior weight loss approach in male war veterans when compared to a SERD. Future research is needed to determine the long‐term effectiveness of the 5:2 diet and its effectiveness in other population groups. 相似文献7.
8.
Amaia Cilla Juan Arnaez Joaquín Suarez Gregoria Megias María Cabrerizo Alfredo Garcia-Alix 《The journal of maternal-fetal & neonatal medicine》2016,29(1):140-142
Recent studies suggest a synergic effect of infection and hypoxia-ischemia in the causation of perinatal brain damage. We conducted a prospective pilot study on the presence of infection in hypoxic-ischemic encephalopathy (HIE), focusing on neurotropic viruses. Sixteen newborns with HIE were included in the study. There were no confirmed cases of viral infection. There was a case of bacterial early onset sepsis and four cases of suspected sepsis due to clinical and/or analytical signs, but with negative cultures. Our results do not support universal screening for viral infection in cases of HIE. 相似文献
9.
Katarzyna Niespodziana Katarina Stenberg-Hammar Nikolaos G. Papadopoulos Margarete Focke-Tejkl Peter Errhalt Jon R. Konradsen Cilla Sderhll Marianne van Hage Gunilla Hedlin Rudolf Valenta 《Viruses》2021,13(5)
Allergen exposure and rhinovirus (RV) infections are common triggers of acute wheezing exacerbations in early childhood. The identification of such trigger factors is difficult but may have therapeutic implications. Increases of IgE and IgG in sera, were shown against allergens and the N-terminal portion of the VP1 proteins of RV species, respectively, several weeks after allergen exposure or RV infection. Hence, increases in VP1-specific IgG and in allergen-specific IgE may serve as biomarkers for RV infections or allergen exposure. The MeDALL-allergen chip containing comprehensive panels of allergens and the PreDicta RV chip equipped with VP1-derived peptides, representative of three genetic RV species, were used to measure allergen-specific IgE levels and RV-species-specific IgG levels in sera obtained from 120 preschool children at the time of an acute wheezing attack and convalescence. Nearly 20% of the children (22/120) showed specific IgE sensitizations to at least one of the allergen molecules on the MeDALL chip. For 87% of the children, increases in RV-specific IgG could be detected in the follow-up sera. This percentage of RV-specific IgG increases was equal in IgE-positive and -negative children. In 10% of the children, increases or de novo appearances of IgE sensitizations indicative of allergen exposure could be detected. Our results suggest that, in the majority of preschool children, RV infections trigger wheezing attacks, but, in addition, allergen exposure seems to play a role as a trigger factor. RV-induced wheezing attacks occur in IgE-sensitized and non-IgE-sensitized children, indicating that allergic sensitization is not a prerequisite for RV-induced wheeze. 相似文献
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