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排序方式: 共有100条查询结果,搜索用时 15 毫秒
71.
Kabaalioğlu A Ceken K Saba R Artan R Cevikol C Yilmaz S 《The Turkish journal of pediatrics》2003,45(1):51-54
Fascioliasis is an uncommon hepatobiliary disease in children. Ultrasonographic, computed tomography (CT) and magnetic resonance imaging (MRI) findings of the disease have been thoroughly described in the last decade. These radiological findings play an important role in the differential diagnosis of the disease since it may clinically mimic several hepatobiliary and systemic diseases. We report three children with fascioliasis, emphasizing the radiological findings in both the hepatic and biliary phases of the disease. If radiological findings are not appropriately interpreted, the diagnosis may be overlooked or delayed. In all three cases the serological confirmation was performed by ELISA method. Patients were treated with oral triclabendazole and soon recovered. 相似文献
72.
Occurrences of allergic reactions induced by various foods have been reported in pediatric liver graft recipients receiving tacrolimus immunosuppression. We describe herein a female infant, who was admitted to our hospital with life-threatening angioedema because of banana hypersensitivity, 8 months after orthotopic liver transplantation. Food allergies should be screened in all tacrolimus-immunosuppressed pediatric liver recipients who show suggestive clinical symptoms. Banana must be added to allergen batteries during etiologic investigations. Cyclosporine represents an option for drug conversion to prevent organ rejection. 相似文献
73.
74.
Müslümanoglu MH Turgut M Cilingir O Can C Ozyürek Y Artan S 《Fertility and sterility》2005,84(2):519-522
To determine the prevalence of Y-chromosome microdeletions among infertile men and to correlate the clinical presentation of the men with specific deletions, microdeletion analysis in 53 infertile men (30 nonobstructive azoospermic, 23 severely oligozoospermic patients), and 100 age-matched, fathered normospermic men who had fathered children was performed by the multiplex PCR with 18 different Y-chromosome-specific STS primer sets, spanning the AZFa, AZFb, AZFd, and AZFc regions. Detection of the same locus deletion of the AZFd region in three cases indicated the possible importance of the genes located in this region in spermatogenesis. 相似文献
75.
Muslumanoglu HM Oner U Ozalp S Acikalin MF Yalcin OT Ozdemir M Artan S 《European journal of obstetrics, gynecology, and reproductive biology》2005,120(1):107-114
OBJECTIVE: To evaluate the sequential genomic copy alterations related to the development of precursor lesions and endometrioid-type endometrial carcinomas, and its association with cellular atypia. STUDY DESIGN: Paraffin-embedded tissue specimens from 32 cases of endometrial hyperplasia, 15 of endometrial carcinoma, and 20 of normal endometrial tissue were retrospectively evaluated by the comparative genomic hybridization (CGH) technique. The average number of copy alterations (ANCA) index was used to define the incidence of genomic imbalances in each tissue group. Identified sequential genetic abnormalities were compared with the final histopathological diagnosis and the cellular atypia. RESULTS: Detectable and consistent chromosomal imbalances were found in 13 hyperplasia and 9 carcinoma specimens. There was a significant correlation between ANCA value and degree of cellular atypia and tumor grade. While 1p36-pter, 20q deletions, and 4q overrepresentation were the most prevalent imbalances detected in both complex hyperplasia and complex atypical hyperplasia, 17q22-qter deletion and amplification of 2p34 were only seen in hyperplasia with atypical cells. Overrepresentations of chromosomes 8q, 1q, and 3q are the most frequent aberrations in endometrial carcinomas, but were absent from all the precursor lesions except one. Underrepresentations of chromosomes 1p36-pter and 10q are the other commonly seen aberrations in carcinomas, the latter being more frequent in moderately differentiated than in poorly differentiated lesions. CONCLUSIONS: Different patterns of chromosomal aberrations are seen in precursor lesions than in endometrial carcinomas, except for the loss of 1p36-pter. The presence of 1p deletion in both endometrial hyperplasia and cancer specimens suggests that this is an early event in the development of carcinoma. These results support a stepwise mode of tumorigenesis with accumulation of a series of genomic copy alterations in endometrial carcinogenesis. 相似文献
76.
Nurettin Baaran A. Cenani B. S. ayli C. Özkinay S. Artan H. Seven A. Baaran S. Dinçer 《Clinical genetics》1992,42(1):13-15
In order to reveal if there is an effect on the genesis of meiotic- or early zygotic non-disjunctions, data related to 1598 Down syndrome patients from 1578 families studied in five different genetic centers in Turkey are reported. Parental consanguinity and the inbreeding coefficient were found to be lower among patients of 21-trisomics than in parents without Down offspring. It was concluded that available information does not support the presence of a "non-disjunction gene" in man. 相似文献
77.
Dacryocystitis associated with osteopoikilosis 总被引:4,自引:0,他引:4
We report five members of a family with dacryocystitis associated with osteopoikilosis. The inheritance is autosomal dominant. Review of the literature revealed no other report of this kind of association. Osteopoikilosis must not be considered as a coincidental radiographic finding but as part of a systemic disorder. 相似文献
78.
Konrad D Sossai R Winklehner HL Binkert F Artan S Schärli AF 《Pediatric surgery international》2000,16(3):226-228
A 45,X/46,Xidic(Y)(q11.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral
cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also
seen in Turner syndrome. A biopsy of the gonads revealed normal prepubertal testicular tissue. A chromosome analysis in all
boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examination of the heart in children with 45,X/46,XY
mosaicism are recommended.
Accepted: 6 August 1999 相似文献
79.
Artan Reso Mantaj Singh Brar Neal Church Philip Mitchell Elijah Dixon Estifanos Debru 《Surgical endoscopy》2010,24(8):2008-2012
Background
Laparoscopic splenectomy (LS) has become a safe and feasible procedure for cases involving spleens of normal size. Only a few publications report on the outcome of LS with preoperative splenic artery embolization (SAE) for massive splenomegaly. The authors present their experience in patients with massive splenomegaly who underwent laparoscopic-assisted splenectomy (LAS) or hand-assisted laparoscopic splenectomy (HALS) following SAE. 相似文献80.
PURPOSE: To report a missense mutation in the M1S1 gene found in a Turkish patient with gelatinous droplike corneal dystrophy (GDLD). METHODS: A Turkish patient with GDLD was examined. Keratoplasty was performed and a diagnosis of GDLD was made by histopathologic and electron microscopic studies. Genomic DNA was extracted from peripheral blood and the paraffin-embedded tissue of the corneal button. A 248-bp DNA fragment of the M1S1 gene was amplified, and sequencing reactions were analyzed. The results were compared with those of 30 healthy, nonrelated individuals. RESULTS: On light microscopic examination, sheets of amorphous amyloid deposits were observed in subepithelial regions and in the anterior and midcorneal stroma. Electron microscopy revealed dense collagen fibrils and entrapped filamentous amyloid fibrils in the corneal stroma. A substitution of T-->C at nucleotide 557 was found in the peripheral blood DNA sequence analysis, which resulted in an amino acid substitution of L-->P (L186P). Results were confirmed by direct DNA sequencing analysis of the paraffin-embedded corneal button. The patient with GDLD was homozygous for the mutation, resulting in amino acid substitution L186P. CONCLUSIONS: This is the first report, to our knowledge, of a homozygous mutation (L186P) in the M1S1 gene found in a Turkish patient. The clinical examination may be insufficient in sporadic cases, and histopathologic examination and molecular genetic analysis can accelerate and improve the accuracy of diagnosis in patients with GDLD. 相似文献