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11.
Khadija Sellami M.D. Hend Chaabane M.D. Hela Fourati M.D. Abderrahmen Masmoudi M.D. Zeineb Mnif M.D. Madiha Mseddi M.D. Hamida Turki M.D. 《Pediatric dermatology》2016,33(5):e333-e336
Dermoid cysts of the central nervous system can cause devastating complications because of the mass effect of meningitis due to sinus tract. We report the case of a 5‐month‐old girl who presented with a crusted lesion of the occipital region of the scalp. Clinical examination noted skin abnormalities suggestive of occult dysraphism. Magnetic resonance imaging (MRI) was recommended, however, 40 days after this evaluation, and before the MRI could be performed, the girl presented with neurologic complications. Unfortunately, the diagnosis of dermoid cyst was made after the onset of severe complications that led to her death. The findings in this case emphasize the importance of more prompt MRI evaluation, particularly in cases where cranial or spinal dysraphism is suspected to have any connection to the skin as a pit or tract. Should we perform an urgent MRI for any cutaneous sign of dysraphism to avoid a dramatic evolution? 相似文献
12.
Katja Kobow Christopher A. Reid Erwin A. van Vliet Albert J. Becker Gemma L. Carvill Alica M. Goldman Shinichi Hirose Iscia Lopes-Cendes Hela Mrabet Khiari Annapurna Poduri Michael R. Johnson David C. Henshall 《Epileptic Disord》2020,22(2):127-141
Epigenetics refers broadly to processes that influence medium to long‐term gene expression by changing the readability and accessibility of the genetic code. The Neurobiology Commission of the International League Against Epilepsy (ILAE) recently convened a Task Force to explore and disseminate advances in epigenetics to better understand their role and intersection with genetics and the neurobiology of epilepsies and their co‐morbidities, and to accelerate translation of these findings into the development of better therapies. Here, we provide a topic primer on epigenetics, explaining the key processes and findings to date in experimental and human epilepsy. We review the growing list of genes with epigenetic functions that have been linked with epilepsy in humans. We consider potential practical applications, including using epigenetic signals as biomarkers for tissue‐ and biofluid‐based diagnostics and the prospects for developing epigenetic‐based treatments for epilepsy. We include a glossary of terms, FAQs and other supports to facilitate a broad understanding of the topic for the non‐expert. Last, we review the limitations, research gaps and the next challenges. In summary, epigenetic processes represent important mechanisms controlling the activity of genes, providing opportunities for insight into disease mechanisms, biomarkers and novel therapies for epilepsy. 相似文献
13.
Methylenetetrahydrofolate reductase (MTHFR) is a central regulatory enzyme in the folate pathway. Two non-synonymous single nucleotide polymorphisms in MTHFR, C677T (rs1801133) and A1298C (rs1801131) have been associated with reduced MTHFR enzyme activity. These polymorphisms, especially C677T, appear to be linked with methotrexate-related toxicity, particularly hepatotoxicity; thus, pretreatment identification of individuals carrying these polymorphisms may be of clinical relevance. The purpose of this study was to determine the frequency and distribution of MTHFR polymorphic variants, known to functionally impair MTHFR activity, in the highly heterogeneous Israeli population. MTHFR genotyping was carried out in the representatives of three major demographic groups in Israel by PCR–restriction fragment length polymorphism and high-resolution melting. The relative distribution of variant alleles 677T and 1298C was found to be similar in individuals of Jewish, Druze and Arab Moslem descent (p = 0.09). However, Ashkenazi Jews displayed a 1.9-fold higher frequency of variant 677T and a 1.8-fold lower frequency of variant 1298C compared to non-Ashkenazi Jews (p < 0.001). Distinct differences in the relative frequencies of both polymorphisms were also found between Ashkenazi Jews and Druze (p < 0.01 for C677T, p < 0.01 for A1298C) or Ashkenazi Jews and Arab Moslem (p < 0.01 for C677T, p < 0.05 for A1298C). These data underscore the importance of geographic genetic analysis for a better understanding of human pharmacotherapy and personalized medicine. 相似文献
14.
Bellil Hela Herve Bérenice Herzog Elodie Ayoubi Jean-Marc Vialard François Poulain Marine 《Journal of assisted reproduction and genetics》2020,37(3):573-577
Journal of Assisted Reproduction and Genetics - Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating... 相似文献
15.
16.
Azaiez H Chamberlin GP Fischer SM Welp CL Prasad SD Taggart RT del Castillo I Van Camp G Smith RJ 《Human mutation》2004,24(4):305-311
Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequencing. If two deafness-causing mutations of GJB2 (encoding Connexin 26) were identified, further screening was not performed. If only a single deafness-causing mutation was identified, we screened for the g.1777179_2085947del (hereafter called del(GJB6-D13S1830); GenBank NT_024524.13) and mutations in the noncoding region of GJB2. Phenotype-genotype correlations were evaluated by categorizing mutations as either protein truncating or nontruncating. A total of 205 persons carried two GJB2 exon 2 mutations and were diagnosed as having DFNB1; 100 persons carried only a single deafness-causing allele variant of exon 2. A total of 37 of these persons were c.35delG carriers, and 51 carried other allele variants of GJB2. Persons diagnosed with DFNB1 segregating two truncating/nonsense mutations had a more severe phenotype than persons carrying two missense mutations, with mean hearing impairments being 88 and 37%, respectively (P < 0.05). The number of deaf c.35delG carriers was greater than expected when compared to the c.35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants. 相似文献
17.
Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
18.
Association of IL-8 (-251)T/A polymorphism with susceptibility to and aggressiveness of nasopharyngeal carcinoma 总被引:2,自引:0,他引:2
Ben Nasr H Chahed K Mestiri S Bouaouina N Snoussi K Chouchane L 《Human immunology》2007,68(9):761-769
Interleukin-8 (IL-8) is an angiogenic chemokine that plays a potent role in both development and progression of many human malignancies including nasopharyngeal carcinoma (NPC). In the present study, we evaluated the susceptibility and prognostic implications of the (-251) T/A genetic variation in IL-8 in NPC. We used the allele-specific polymerase chain reaction to characterize the variation of the IL-8 promoter region for 160 unrelated Tunisian patients with NPC and 169 healthy control subjects. There was a significant association between the homozygotes IL-8 (-251) AA genotype and nasopharyngeal carcinoma (OR = 2.46; P = 0.004). The presence of the IL-8 (-251) AA genotype was highly associated with elevated NPC risk for male patients. A significant association was demonstrated between the IL-8 (-251) AA genotype and the aggressive forms of NPC as defined by large tumor size, lymph node metastasis, and advanced stages. Moreover, the presence of the IL-8 (-251) AA genotype indicated a significant association with decreased overall survival. Our findings suggest that the IL-8 promoter polymorphism is associated with increased nasopharyngeal carcinoma risk, particularly in males, as well as disease progress, supporting our hypothesis for IL-8 involvement in NPC pathogenesis. 相似文献
19.
Hela Sahli Nedia Testouri Manel Ben Chihaoui Afef Hadj Salah Elhem Cheour Nihel Meddeb Bechir Zouari Slaheddine Sellami 《Maturitas》2009
Interpretation of densitometric results requires a comparison with reference bone mineral density (BMD) values of normal age and sex-matched persons. Thus the aim of this study was to determine these values for healthy Tunisian women, to estimate the prevalence of osteoporosis and to compare our findings with other populations. A cross-sectional study of 1378 Tunisian women aged between 20 and 96 years was carried out using DXA (GE-Lunar Prodigy). Subjects with suspected conditions affecting bone metabolism were excluded. Measurements were taken at the lumbar spine and femoral neck. These values were expressed at T-scores, with reference to the mean BMD values of the group aged 20–40 years. The peak bone mass, estimated in this age group was 1.174 + 0.127 g/cm2 at the lumbar spine and 1.016 ± 0.118 g/cm2 at the femoral site. It was attained respectively within the age of 25 years and 36 years. For both sites, the expected decline in BMD was shown when the successive age groups [40–49 years] and [50–59 years] were compared. Bone loss was rapid during the first 5 years after menopause. Thereafter BMD declined slowly but continually. The prevalence of osteoporosis in the women over 50 years of age, taking account of peak bone mass observed in our cohort, was 23.3% at the spine and 17.3% at the femoral neck with a combined prevalence of 23.4%. These rates attained respectively 30.4%, 11.8% and 32.9% when we considered the Italian values, which demonstrate the variability of osteodensitometric depending to the reference population adopted. 相似文献
20.
Mariam Siala Nadia Mahfoudh Radhouane Gdoura Mohamed Younes Hela Fourati Arwa Kammoun Ilhem Chour Nihel Meddeb Lilia Gaddour Faiza Hakim Sofien Baklouti Naceur Bargaoui Sleheddine Sellami Adnene Hammami Hafedh Makni 《Rheumatology international》2009,29(10):1193-1196
The purpose of the present study is to investigate the frequency of HLA-B27 and its alleles in reactive arthritis (ReA) and
in ankylosing spondylitis (AS) in Tunisia. HLA-B27 alleles were typed by PCR amplification with sequence-specific primers.
We studied 17 patients with ReA associated with urethritis or with gastrointestinal infection; 42 HLA-B27-positive patients
with AS and 100 healthy controls. Eleven ReA patients (67.7%) were HLA-B27 positive. There was an increased frequencies of
HLA-B27 (P = 7.76 × 10−12, OR = 59.30) and a moderate increase of HLA-B51 (P = 0.015; OR = 4.91) alleles in ReA patients when compared with healthy controls. Four B27 subtypes were identified: B*2702,
05, 09 and B*2712. The distribution of these alleles in the ReA patients was 37.5% for B*2702 and B*2705. Only these two subtypes
were detected in 18 (42.8%) and 24 (57.1%), respectively, of the AS patients. B*2709 and B*2712 were relatively rare in ReA
patients and were identified in one case each. Our results showed a restricted number of HLA-B27 subtypes associated with
ReA and AS. B*2702 and 2705 were common in ReA and AS patients. 相似文献