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排序方式: 共有301条查询结果,搜索用时 0 毫秒
1.
Vaccine-associated paralytic poliomyelitis in a patient with MHC class II deficiency. 总被引:1,自引:0,他引:1
Nima Parvaneh Shohreh Shahmahmoudi Hamideh Tabatabai Mohsen Zahraei Taha Mousavi Abdol-Reza Esteghamati Mohammad M Gooya Setareh Mamishi Rakhshandeh Nategh Olen M Kew 《Journal of clinical virology》2007,39(2):145-148
Vaccine-associated paralytic poliomyelitis (VAPP) is a rare complication of oral polio vaccine. We describe a fatal case of VAPP in an 8-month-old boy with Major Histocompatibility Class II deficiency. The isolated poliovirus was a Sabin type 2-type 1 recombinant that showed 1.4% VP1 divergence from Sabin type 2. 相似文献
2.
Parvaneh Karimzadeh Sepideh Rezakhani Mohammad Miryounesi Sahar Alijanpour 《Clinical Case Reports》2022,10(8)
Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: :c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant. NM_005687.4相似文献
3.
Teimourian S Rezvani Z Badalzadeh M Kannengiesser C Mansouri D Movahedi M Zomorodian E Parvaneh N Mamishi S Pourpak Z Moin M 《International journal of hematology》2008,87(4):398-404
Chronic granulomatous disease (CGD) is an inherited disorder of pathogen killing by phagocytic leukocytes caused by mutations
in NADPH oxidase subunits. Patients with CGD have life-threatening bacterial and fungal infections. Children’s Medical Center
at Tehran University is the referral center for immunodeficiency in Iran. During 2 years of study, 11 non-consanguineous families
with clinically diagnosed CGD were referred to this center. In functional assays performed on neutrophils from affected children
and their mothers; no activity or strongly decreased oxidase activity was detected in the patients’ cells. In oxidase tests
that scored this activity on a per-cell basis, a mosaic pattern was detected in the neutrophils from all 11 mothers. Western
blot analysis revealed an X91° phenotype in all patients. Mutation screening in the CYBB gene encoding gp91phox by SSCP analysis followed by sequencing showed nine different mutations, including two novel mutations. The present survey
is the first study aimed to analyze the clinical features and the molecular diagnosis of X-CGD in Iranian patients. 相似文献
4.
Kerstin Hogg Joseph Shaw Douglas Coyle Parvaneh Fallah Marc Carrier Phil Wells 《Thrombosis research》2014
Introduction
The standard gamble is considered the ‘gold standard’ technique for measuring quality of life. We recently used the standard gamble to estimate quality of life in acute venous thrombosis, and found unexpected variability in the responses. The current study aimed to explore the reasons for variability by comparing the standard gamble technique in patients with acute venous thrombosis to other quality of life measurement tools.Materials and Methods
Thrombosis clinic patients treated for venous thrombosis were eligible to participate. Patients evaluated their current health state by performing a standard gamble interview, reporting on a visual analogue scale, completing the SF-36 and disease specific questionnaires (PEmb-Qol and VEINES-QOL/Sym). Validity was assessed by correlating the standard gamble utilities with the other methods. Test-retest reliability, responsiveness and acceptability were also assessed.Results
Forty-four patients were interviewed, with 16 attending for a repeat interview. The median standard gamble utility was 0.97 (0.84-1.0), SF-6D 0.64 (0.59 - 0.80) and visual analogue score 70 (60 - 80). Participants with pulmonary embolism had lower standard gamble estimates than those with deep vein thrombosis. There was good discriminant validity in that the standard gamble estimates were not associated with risk taking behavior, negative outlook, sex or education. Test-retest reliability with the standard gamble was moderate and there was evidence of a ceiling effect.Conclusions
Standard gamble utilities are higher than other methods of measuring quality of life in venous thrombosis. The choice of utility values adopted in studies will impact on future economic studies. 相似文献5.
6.
Teimourian S Zomorodian E Badalzadeh M Pouya A Kannengiesser C Mansouri D Cheraghi T Parvaneh N 《British journal of haematology》2008,141(6):848-851
One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA showed six different novel mutations: deletion of exons 3, 4 and 5; a missense mutation in exon 6 (c.373G>A); a splice site mutation in intron 5 (c.369+1G>A); a frameshift in exon 6 (c.385delGAGC); a frameshift in exon 3 (c.174delG); and a frameshift in exon 4 (c.223delC). 相似文献
7.
Azim Mehrvar Mohammad Faranoush Amir Abbas Hedayati Asl Maryam Tashvighi Mohammad Ali Fazeli Ibrahim Qaddoumi Narjes Mehrvar Behdad Sobuti Ali Jafarpour Reza Ravan parsa Rokhsaneh Zangooei Mardawig Alebouyeh Parvaneh Vossough 《Child's nervous system》2014,30(3):491-496
Purpose
As central nervous system (CNS) tumors account for second most common childhood malignancies and the first cause of mortality in children with cancer, improving treatment modalities can lead to increase the health care of patients. In this study, we examined the prevalence of childhood brain tumors in patients who referred to MAHAK’s Pediatric Cancer Treatment and Research Center (MPCTRC) for treatment.Methods
A retrospective review of all children less than 15 years old with a CNS histologically proven tumor, who presented to MPCTRC from April 2007 to April 2010, was performed. Data was analyzed by SPSS version 19 with Kolmogorov–Smirnov and Chi-square tests.Results
There were 198 (124 boys) children eligible for the study. The majority of the tumors were infratentorial (n?=?134), and the rest were supratentorial (n?=?60) and spinal (n?=?4) cases. The median age was 6.11?±?3.65 years old. Medulloblastoma (n?=?66), low-grade glioma (n?=?52), and high-grade glioma (n?=?40) were the most common tumors. The mean duration of follow-up was 21 months. At the time of this analysis, there were 105 (53 %) children alive, 82 (41.4 %) deaths, and 11 (5.6 %) lost for follow-up. The survival rate was 51.68?±?5.22 %.Conclusions
In contrast of high rate of death in this study, other general characteristics can serve as benchmark for improving our care for children with brain tumors in Iran. 相似文献8.
Nima Parvaneh Pierre Quartier Parastoo Rostami Jean-Laurent Casanova Pascale de Lonlay 《Journal of clinical immunology》2014,34(7):753-771
A number of inborn errors of metabolism (IEM) have been shown to result in predominantly immunologic phenotypes, manifesting in part as inborn errors of immunity. These phenotypes are mostly caused by defects that affect the (i) quality or quantity of essential structural building blocks (e.g., nucleic acids, and amino acids), (ii) cellular energy economy (e.g., glucose metabolism), (iii) post-translational protein modification (e.g., glycosylation) or (iv) mitochondrial function. Presenting as multisystemic defects, they also affect innate or adaptive immunity, or both, and display various types of immune dysregulation. Specific and potentially curative therapies are available for some of these diseases, whereas targeted treatments capable of inducing clinical remission are available for others. We will herein review the pathogenesis, diagnosis, and treatment of primary immunodeficiencies (PIDs) due to underlying metabolic disorders. 相似文献
9.
Yasamin Kalantari Afsaneh SadeghzadehBazargan Zeinab Aryanian Parvaneh Hatami Azadeh Goodarzi 《Clinical Case Reports》2022,10(2)
Cases of filler reactions after COVID‐19 vaccination have been reported. Here, we present the first case of delayed‐type reaction (DTR) to non‐hyaluronic acid Polycaprolactone dermal filler after the second dose of Sinopharm COVID‐19 vaccine which was improved with administration of topical and intralesional steroids. 相似文献
10.
Hedyeh Fazel Tolami Alireza Sharafshah Laleh Fazel Tolami Parvaneh Keshavarz 《Journal of molecular neuroscience : MN》2020,70(4):504-513
The associations of OPRM1 gene variants with opioid dependence have been demonstrated. This study investigated the association of rs495491, rs1799971 (A118G), rs589046, and rs10457090 variants of OPRM1 gene with opium dependence and their haplotypes among addicted individuals undergoing methadone treatment. Moreover, we investigated whether any of these variants were associated with libido dysfunction or insomnia among addicted people. A total of 404 individuals were genotyped by amplification refractory mutation system (ARMS) PCR. In silico studies were designed through homology modeling of A118G structures (N40 and D40) and docked with 41 FDA-approved drugs of OPRM1 protein by SWISS-MODEL, COACH, MolProbity, ProSA, Errat, Glide XP, and Autodock 4. Results revealed that rs495491, A118G, rs589046, and rs10457090 were significantly associated with opium dependence under recessive (P = 6.66E-10), dominant (P = 0.017), co-dominant (P = 0.001), and recessive (P = 9.28E-6) models of inheritance, respectively. Further analyses indicated three significant haplotypes including A-A-A-C (P-permutation < 1E-9), G-G-A-C (P-permutation = 0.04), and G-A-G-C (P-permutation = 8.69E-4). Genotype-phenotype associations of OPRM1 variants with insomnia and libido dysfunction showed no significant association. Docking showed the higher binding affinity of N40 rather than D40 model; however, methadone and morphine were bonded with D40 structure more powerful. Consequently, rs495491, A118G, rs589046, and rs10457090 were associated with opioid dependence among Iranians; also, A118G might be the most remarkable marker of OPRM1 owing to its vital structural roles. 相似文献