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231.
Charfeddine C Mokni M Kassar S Zribi H Bouchlaka C Boubaker S Rebai A Ben Osman A Abdelhak S 《Journal of human genetics》2006,51(10):841-845
Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene. 相似文献
232.
Hanne Landolsi Nabiha Missaoui Mohamed Tahar Yacoubi Amel Trabelsi Soumaya Rammeh-Rommani Samir Hidar Moez Gribaa Sihem Hmissa Moncef Mokni 《Pathology, research and practice》2009,205(11):789-796
This study retrospectively evaluated the histopathological criteria commonly used in the literature on the diagnosis of hydatidiform mole, in correlation with the diagnosis rendered previously. The molar and non-molar cases seen in the first-trimester of pregnancy were separately reviewed by two pathologists. The correlation between the consensual histological diagnosis and the ploidy status was then evaluated.We retrospectively studied 89 specimens of abortus conception, including 35 complete hydatidiform moles (CHM), 12 partial hydatidiform moles (PHM), and 42 hydropic abortions (HA).The final histopathological diagnosis was compared with the results of DNA content detected by imaging analyzer (Samba 200), studying all cases of molar pregnancy and 4 cases of HA (initially diagnosed as molar pregnancies).In the consensus histological diagnosis, the cases were reclassified as follows: 30 CHM (initial diagnosis (ID): 27 CHM and 3 PHM), 12 PHM (ID: 6 PHM and 6 CHM), and one case with a persistent problem in differentiating PHM from HA and 46 HA (ID: 42 HA, 2 CHM, and 2 PHM).An agreement between the two pathologists was reached in 77 cases (K=0.72, 0.52, and 0.9, respectively, for CHM, PHM, and HA).The ploidy study demonstrated diploidy in 56.6% (17/30) of CHM and triploidy in 58.3% (7/12) of PHM. In the 4 cases of HA studied, 3 were diploid and 1 case was aneuploid.Our study demonstrated that several histopathological criteria could be used for the distinction between PHM, CHM, and HA. However, the study of DNA cannot be the technique of choice to distinguish between these entities. Some cases remain problematic since the morphological criteria are not easily reproducible. New sensitive techniques might resolve these dilemmas. 相似文献
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Zaraa I Trojjet S El Guellali N El Euch D Chelly I Mokni M Zitouna M Osman AB 《Pediatric dermatology》2012,29(4):479-482
Erythema nodosum (EN) in association with kerion celsi is a rare condition in children, with only 11 cases having been reported in the English literature. We describe a new case in a 7-year-old boy in whom the disorder had begun 2 months before. He had many inflamed, boggy, suppurative nodules over the left occipitoparietal area of the scalp and, 2 weeks later, developed multiple painful, erythematous subcutaneous nodules of the shins, thighs, and upper limbs. EN was confirmed by histologic examination. Our review of the literature of all cases of EN during kerion showed that it usually occurs at or slightly after the height of infection or after drug introduction. Trichophyton mentagrophytes was involved in the majority of cases, and improvement of EN usually occurs with griseofulvin. 相似文献