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I. DILEK N. TOPCU C. DEMIR A. BAY K. UZUN A. GUL A. FAIK
NER S. UGRAS 《International journal of laboratory hematology》2006,28(3):170-176
The incidence of hematological malignancies during pregnancy is low, and treatment in this setting is problematic. This study observed 21 pregnancies in 18 patients with hematological malignancies. Patients’ ages were between 19 and 43 (median 25) years. Two pregnancies ended with spontaneous abortion, one pregnancy ended with in utero death, three therapeutic abortions were carried out, and 15 infants were born alive but three of them died later. The median birth weight was 2.47 kg. Twelve babies survived to a median age of 36 (range 4–117) months. Eight babies were exposed to chemotherapy during the in utero period. One baby was exposed to chemotherapy during all the trimesters and was born prematurely and later died because of intracranial bleeding. Four babies were exposed to chemotherapy during the first trimester, one of them had low birth weight and floating thumb malformation, two of them had only low birth weight, and one was born healthy, but died at 3 months of age as a result of severe gastroenteritis. Two babies were exposed to chemotherapy during the second and third trimesters; one of them had low birth weight, and the other pregnancy ended in in utero death. One infant was exposed to chemotherapy during the third trimester and was born at term, but died because of pulmonary hemorrhage. We concluded that chemotherapy during all trimesters of pregnancy carries a significant risk for an unfavorable outcome. 相似文献
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Kentaro Yamasaki Takafumi Ishida Tatsuya Kishino Norio Niikawa 《American journal of medical genetics. Part A》2002,111(3):301-306
We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc. 相似文献
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The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease. 相似文献
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Hisham Abdel Ghani Ahmed El-Naggar Mohamad Hegazy Atef Hanna Yehia Tarraf Samia Temtamy 《Journal of children's orthopaedics》2007,1(5):313-322
Purpose Congenital clasped thumb is a deformity that is associated with heterogeneous congenital anomalies and it has been addressed
in many congenital syndromes. The aim of this study was to diagnose and evaluate cases of clasped thumb as regards the associated
congenital anomalies and syndromes, and evaluation of the results of treatment of such cases.
Methods A prospective study on 40 patients with 73 clasped thumbs was done. All the patients’ data regarding their personal, family,
pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical and radiological examination
and genetic assessment. The cases were classified using the Tsuyuguchi et al. (J Hand Surg [Am] 10:613–618, 1985) classification into three types. Conservative treatment was adopted in ten hands, and surgical treatment was performed for
28 hands in 17 patients, with an average follow-up of 26 months.
Results Positive consanguinity was recorded in 57.5% of cases. Associated anomalies were recorded in 77.5% of cases. Type I was the
most common one, followed by type III and then type II. Conservative treatment is effective in type I cases when presented
early, and all patients were satisfied with the results of surgical treatment.
Conclusions We reported associated anomalies which are to our knowledge have not mentioned before in the literature which include; congenital
blindness, radial deviation of the index finger and ventricular septal defect. We found that 68% of the patients had associated
syndromes, and this has not been mentioned before. In this study, we found that there were no difference between type II and
type III clasped thumb as regards the pathological findings, severity, the operative procedures, the treatment protocol and
the operative results. Properly planned treatment gives satisfactory results. 相似文献
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The fixation of a distally ruptured ulnar collateral ligament of the MP 1 (Metacarpophalangeal) joint without a portion of ligament which can be sutured or a small bony fragment can be accomplished with a variety of methods, most of which require drillholes through borth cortices and a counter incision as well as the removal of the material at a second stage [1, 11, 13, 15]. The Mitek bone mini anchor (Ethicon-Mitek®) proved to be a reliable and quick alternative [10, 12, 16, 18, 19]. It was successfully used in eleven patients with excellent stability of the reconstructed joint. 相似文献
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Fusion of the metarcarpophalangeal joint of the thumb is an accepted treatment in the management of instability or osteoarthritis following trauma to this joint. A review was made of the literature and 30 of the senior author's (RH) patients who had had this operation, in order to determine what effect the operation had on the pain in their thumb, any symptoms of instability, interference with work and daily activities, and strength in the hand. All of the patients achieved bony union and the average angle of fusion was 7.6 degrees of flexion. All of the patients were either satisfied or very satisfied with the results of the operation, and had an average increase of 6.3 points on a 12 point rating scale. However, 48% of patients had some mild intermittent pain and 43% complained of some difficulty with fine motor tasks. Twelve patients were able to attend for formal evaluation including the Jebson and Crawford Hand Function Tests which revealed some decrease in hand function in all of those tested. It was concluded that this method of arthrodesis of the metacarpophalangeal joint of the thumb gives reliable results, with high patient acceptance, but does not result in an entirely normal thumb or hand function. 相似文献