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排序方式: 共有142条查询结果,搜索用时 15 毫秒
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Ruck NF Hafeez M Manzur S Nasir F Rivers K Prozesky D 《Journal of health & population in developing countries》1999,2(1):78-87
Pakistan's public sector is organized in a federal system with many management and planning functions devolved to the 4 provincial governments. Provincial health secretariats lead on most policy and planning decisions for health services. The provinces employ health personnel, although the national Public Service Commission controls some key aspects of human resources management. Reporting the findings of a training needs assessment (TNA) for health personnel in the provincial health services of Punjab, the authors show how TNA can be used systematically to improve the quality of health professional training. They also discuss the extent to which better training could contribute to improved health management capacity in Pakistan, and describe the context and problems of Pakistan's health services, focusing upon management capacity, and the methods and results of a training needs assessment conducted to address the problems. A final section covers the usefulness of the TNA method in Pakistan and its applicability to other countries. Moreover, the implications of decentralization and the problems of preparing training plans in the absence of decentralized structures are discussed. 相似文献
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Mariacristina Scoto Thomas Cullup Sebahattin Cirak Shu Yau Adnan Y Manzur Lucy Feng Thomas S Jacques Glenn Anderson Stephen Abbs Caroline Sewry Heinz Jungbluth Francesco Muntoni 《European journal of human genetics : EJHG》2013,21(11):1249-1252
Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline rods on muscle biopsy. Exceptional adult cases with additional cores and an isolated distal weakness have been reported. The large NEB gene with 183 exons has been an obstacle for the genetic work-up. Here we report a childhood-onset case with distal weakness and a core-rod myopathy, associated with recessive NEB mutations identified by next generation sequencing (NGS). This 6-year-old boy presented with a history of gross-motor difficulties following a normal early development. He had distal leg weakness with bilateral foot drop, as well as axial muscle weakness, scoliosis and spinal rigidity; additionally he required nocturnal respiratory support. Muscle magnetic resonance (MR) imaging showed distal involvement in the medial and anterior compartment of the lower leg. A muscle biopsy featured both rods and cores. Initial targeted testing identified a heterozygous Nebulin exon 55 deletion. Further analysis using NGS revealed a frameshifting 4 bp duplication, c.24372_24375dup (P.Val8126fs), on the opposite allele. This case illustrates that NEB mutations can cause childhood onset distal NM, with additional cores on muscle biopsy and proves the diagnostic utility of NGS for myopathies, particularly when large genes are implicated. 相似文献
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Haiyan Zhou Ori Rokach Lucy Feng Iulia Munteanu Kamel Mamchaoui Jo M. Wilmshurst Caroline Sewry Adnan Y. Manzur Komala Pillay Vincent Mouly Michael Duchen Heinz Jungbluth Susan Treves Francesco Muntoni 《Human mutation》2013,34(7):986-996
In skeletal muscle, excitation–contraction (EC) coupling is the process whereby the voltage‐gated dihydropyridine receptor (DHPR) located on the transverse tubules activates calcium release from the sarcoplasmic reticulum by activating ryanodine receptor (RyR1) Ca2+ channels located on the terminal cisternae. This subcellular membrane specialization is necessary for proper intracellular signaling and any alterations in its architecture may lead to neuromuscular disorders. In this study, we present evidence that patients with recessive RYR1‐related congenital myopathies due to primary RyR1 deficiency also exhibit downregulation of the alfa 1 subunit of the DHPR and show disruption of the spatial organization of the EC coupling machinery. We created a cellular RyR1 knockdown model using immortalized human myoblasts transfected with RyR1 siRNA and confirm that knocking down RyR1 concomitantly downregulates not only the DHPR but also the expression of other proteins involved in EC coupling. Unexpectedly, this was paralleled by the upregulation of inositol‐1,4,5‐triphosphate receptors; functionally however, upregulation of the latter Ca2+ channels did not compensate for the lack of RyR1‐mediated Ca2+ release. These results indicate that in some patients, RyR1 deficiency concomitantly alters the expression pattern of several proteins involved in calcium homeostasis and that this may influence the manifestation of these diseases. 相似文献
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Nosocomial outbreak due to extended-spectrum-beta-lactamase- producing Enterobacter cloacae in a cardiothoracic intensive care unit 总被引:1,自引:0,他引:1
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Manzur A Tubau F Pujol M Calatayud L Dominguez MA Peña C Sora M Gudiol F Ariza J 《Journal of clinical microbiology》2007,45(8):2365-2369
Enterobacter cloacae has been associated with several outbreaks, usually involving strains that overproduce chromosomal beta-lactamase or, uncommonly, strains expressing extended-spectrum beta-lactamases (ESBL). Only sporadic cases of ESBL-producing E. cloacae have been identified in our hospital in recent years. We describe the epidemiology and clinical and microbiological characteristics of an outbreak caused by ESBL-producing E. cloacae in a cardiothoracic intensive care unit (CT-ICU). Prospective surveillance of patients with infection or colonization by ESBL-producing E. cloacae among patients admitted to the CT-ICU was performed during the outbreak. Production of ESBL was determined by decreased susceptibility to expanded-spectrum cephalosporins and a positive double-disk test result. Clone relatedness was determined by pulsed-field gel electrophoresis (PFGE). From July to September 2005, seven patients in the CT-ICU with ESBL-producing E. cloacae were identified (four males; median age, 73 years; range, 45 to 76 years); six patients had cardiac surgery. Four patients developed infections; three had primary bacteremia, one had ventilator-associated pneumonia, and one had tracheobronchitis. ESBL-producing E. cloacae showed resistance to quinolones and aminoglycosides. PFGE revealed two patterns. Five isolates belonged to clone A; two carried a single ESBL (pI 8.2 and a positive PCR result for the SHV type), and three carried two ESBLs (pIs 8.1 and 8.2 and positive PCR results for the SHV and CTX-M-9 types). Isolates belonging to clone B carried a single ESBL (pI 5.4 and a positive PCR result for the TEM type). Review of antibiotic consumption showed increased use of cefepime and quinolones during June and July 2005. The outbreak was stopped by the implementation of barrier measures and cephalosporin restriction. ESBL production could be increasingly common in nosocomial pathogens other than Escherichia coli or Klebsiella pneumoniae. 相似文献
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Munirul Alam Shah Manzur Rashed Shahnewaj Bin Mannan Tarequl Islam Marcial Leonardo Lizarraga-Partida Gabriela Delgado Rosario Morales-Espinosa Jose Luis Mendez Armando Navarro Haruo Watanabe Makoto Ohnishi Nur A. Hasan Anwar Huq R. Bradley Sack Rita R. Colwell Alejandro Cravioto 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(27):9917-9922
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Vasta I Kinali M Messina S Guzzetta A Kapellou O Manzur A Cowan F Muntoni F Mercuri E 《The Journal of pediatrics》2005,146(1):73-79
OBJECTIVE: To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders. STUDY DESIGN: Sixty-six of the 83 infants who fulfilled the inclusion criteria (79.5%) had an identifiable disorder, which was a neuromuscular disorder in 39 (46.9%). RESULTS: Absent or extremely reduced antigravity movements were mainly found in infants with neuromuscular disorders (sensitivity and specificity 97.4% and 75%), whereas partial range antigravity movements were more frequent in infants with other diagnosis. Contractures were mainly found in infants with peripheral nerve or muscle involvement but also were relatively frequent in infants with genetic or metabolic syndromes (sensitivity 69.2%, specificity 61.3%). Reduced fetal movements and abnormal liquor were frequent but not present consistently in infants with neuromuscular disorders (sensitivity 46.1% and 38.4%) and were found rarely in infants with other disorders (specificity 88.6% and 75.0%). CONCLUSIONS: Severe muscle weakness and contractures are the most reliable indicators of a neuromuscular disorder and should be carefully assessed in an infant with neonatal hypotonia. 相似文献
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Emma Clement MBChB Eugenio Mercuri MD Caroline Godfrey BSc Janine Smith MBChB Stephanie Robb MD Maria Kinali MRCPCH MD Volker Straub MD Kate Bushby MD Adnan Manzur FRCPCH Beril Talim MD Frances Cowan MD PhD Ros Quinlivan FRCPCH Andrea Klein MD Cheryl Longman MD Robert McWilliam FRCPCH Haluk Topaloglu MD Rachael Mein BSc Stephen Abbs PhD Kathryn North MD A. James Barkovich MD Mary Rutherford MD PhD Francesco Muntoni MD 《Annals of neurology》2008,64(5):573-582