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Biotinidase deficiency is inherited as an antosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascertained by newborn screening. Transition 511G->A near the 5' end of exon D results in a substitution of threonine for alanine 171 (A171T) and transversion 1330G->C occurs close to the 3' end of exon D causing a substitution of histidine for aspartic acid 444 (D444H). The D444H mutation was detected in four individuals from our normal population whose mean serum biotinidase activity is 5.25 nmol/min/ml, which is significantly lower than the mean normal activity (7.1 nmol/min/ml). We calculated that this mutation causes a 52% loss of activity in the aberrant enzyme. Twenty-three individuals with the D444H mutation were found by allele specific oligonucleotide analysis of DNA from 296 randomly-selected, anonymous dried-blood spots. We estimate the frequency of this allele in the general population to be 0.039. In contrast, no individuals in 376 have the A171T mutation. Fourteen children (eleven probands and three siblings) out of the 31 enzyme-deficient children have both the A171T and D444H mutations. Both mutations are inherited from a single parent as a double mutation allele. The nine families in which this allele was identified are of mostly European ancestry, although the mutation cannot be attributed to a specific nationality or ethnic group. The serum of a child who is homozygous for the double mutation allele has very little CRM and the aberrant enzyme has very low biotinylhydrolase activity and no botinyl-transferase activity. This double mutation allele (A171T and D444H) is a common cause of profound biotinidase deficience in children ascertained by newborn screening in the United States. 相似文献
3.
Alobeid B Pan LX Milligan L Budel L Frizzera G 《American journal of clinical pathology》2004,121(1):43-50
We describe 3 patients who had oral mucosal lesions with features of traumatic eosinophilic granuloma (TEG) and containing CD30+ atypical cells. In 1 patient, the oral lesion was followed by skin nodules. All lesions were evaluated histologically, by immunohistochemical analysis, and by polymerase chain reaction (PCR) analysis of the T-cell receptor (TCR) gamma chain gene. All oral lesions were characterized by a dense and deeply infiltrative lymphoproliferation, showing epitheliotropism and massive eosinophilia. They contained atypical large lymphoid cells, which expressed T-cell markers and CD30. PCR analysis showed a monoclonal rearrangement of the TCR gamma chain gene in all lesions and, in 1 patient, the same rearrangement in the oral and cutaneous specimens. The lesions in these patients seem to be the oral counterpart of the spectrum of primary cutaneous CD30+ lymphoproliferative disorders and should be recognized as such to avoid a diagnosis of large T-cell lymphoma and possible consequent overtreatment. However, they represent only a subset among several others within the complex and heterogeneous category of disorders referred to as TEG. 相似文献
4.
GATA3 expression in primary vulvar Paget disease: a potential pitfall leading to misdiagnosis of pagetoid urothelial intraepithelial neoplasia
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Rostagno A Frizzera G Ylagan L Kumar A Ghiso J Gallo G 《British journal of haematology》2002,119(1):62-69
Tumoral monoclonal immunoglobulin (Ig) light chain non-fibrillar deposits ('aggregomas'), which can be considered analogous to solitary light chain amyloidomas, are a rare presenting feature of B-cell dyscrasias. It is not certain if they are truly localized or if in reality they represent an initial expression of a silent systemic non-amyloid light chain deposition disease (LCDD). This report describes three patients, two of whom presented with cervical masses and the third with a solitary lung nodule, each comprising granular aggregates of monoclonal kappa light chain. Extracted deposits from the lymph node of one patient were shown by N-terminal amino acid sequence analysis to belong to the variable-region kappa I (Vkappa I) light chain subgroup, the first reported kappa-LCDD protein encoded by the L9 gene and the first report of an expressed protein related to this gene. Extracted deposits from the lung nodule of the second patient belonged to the Vkappa IV light chain subgroup encoded by the B3 germ line gene. The N-terminal amino acid sequences of the light chains from the aggregomas were compared with the related germ line sequences and to the N-terminal amino acid sequences of the nine other known kappa-LCDD light chains reported thus far from patients with systemic LCDD. 相似文献
7.
Letícia Carnaz Cristiane S. Moriguchi Ana Beatriz de Oliveira Paulo R.P. Santiago Glauco A.P. Caurin Gert-Åke Hansson Helenice J.C. Gil Coury 《Medical engineering & physics》2013,35(11):1629-1637
This study compared neck range of movement recording using three different methods goniometers (EGM), inclinometers (INC) and a three-dimensional video analysis system (IMG) in simultaneous and synchronized data collection. Twelve females performed neck flexion-extension, lateral flexion, rotation and circumduction. The differences between EGM, INC, and IMG were calculated sample by sample. For flexion-extension movement, IMG underestimated the amplitude by 13%; moreover, EGM showed a crosstalk of about 20% for lateral flexion and rotation axes. In lateral flexion movement, all systems showed similar amplitude and the inter-system differences were moderate (4–7%). For rotation movement, EGM showed a high crosstalk (13%) for flexion-extension axis. During the circumduction movement, IMG underestimated the amplitude of flexion-extension movements by about 11%, and the inter-system differences were high (about 17%) except for INC–IMG regarding lateral flexion (7%) and EGM–INC regarding flexion-extension (10%). For application in workplace, INC presents good results compared to IMG and EGM though INC cannot record rotation. EGM should be improved in order to reduce its crosstalk errors and allow recording of the full neck range of movement. Due to non-optimal positioning of the cameras for recording flexion–extension, IMG underestimated the amplitude of these movements. 相似文献
8.
Paola Turchiello da SILVA Luciana Dapieve PATIAS Glauco da Costa ALVAREZ Vanessa Ramos KIRSTEN Elisangela COLPO Cristina Machado Bragan?a de MORAES 《Brazilian archives of digestive surgery》2015,28(4):270-273
Background :
Nowadays obesity is a chronic disease considered one of the greatest problems in public healthy. Showing to be effective in a short and long term, the bariatric surgery has emerged as an optional treatment for morbid obesity.Aim:
Identify the profile of patients seeking bariatric surgery.Methods:
Were interviewed 100 patients in preoperative nutritional monitoring of bariatric surgery. The study was conducted by applying a questionnaire prepared according to the research objectives.Results:
From the individuals that were seeking bariatric surgery, 78% were female, 62% were married and 69% reported physical activity. The average age of those surveyed was 37±10.83 years and mean body mass index (BMI) was 43.51± 6.25 kg/m². The comorbidity more prevalent in this group was high blood pressure (51%). In previous treatments for weight reduction, 92% have already done hypocaloric diet followed by anorectic drug (83%). The success of these treatments was reported by 92% of patients; however, the weight lost was recovered in less than one year of 75%. Patients with diabetes mellitus and dyslipidemia had higher BMI values. The patients with comorbidities showed lower levels of BMI.Conclusion:
The profile of patients who sought surgical treatment for their obesity were predominantly women with a family background of obesity and obesity-related comorbidities, especially hypertension and diabetes mellitus. 相似文献9.
Autoimmune lymphoproliferative disease (ALD) is a rare familial disorder. Clinical and laboratory features of this disease
include a generalized lymphadenopathy, splenomegaly, increased levels of circulating CD3+ with low levels of CD4+, CD8+ T-cells,
and autoimmune phenomena, characteristics that the autoimmune lymphoproliferative syndrome (ALPS) have in common. Treatment
usually consists of different supportive therapies. We report on the case of a young man affected by ALD who became resistant
to steroids and was unresponsive to cyclosporine. Nevertheless, he was successfully treated with interferon (IFN)-α, resulting
in a long-lasting, clinically complete remission.
Received: 29 November 1999 / Accepted: 29 June 2000 相似文献
10.
Kelly Cristina Lira de Andrade Pedro de Lemos Menezes Aline Tenório Lins Carnaúba Renato Glauco de Sousa Rodrigues Mariana de Carvalho Leal Liliane Desgualdo Pereira 《Clinics (S?o Paulo, Brazil)》2013,68(6):815-819