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1.
Michael Hutchinson Jonathon O'Riordan Mohammed Javed Etain Quin Donal Macerlaine Teresa Willcox Nollaig Parfrey Tamas G. Nagy Elisabeth Tournier-Lasserve 《Annals of neurology》1995,38(5):817-824
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial cerebrovascular disorder shown to map to chromosome 19q12. Familial hemiplegic migraine has also been shown in some families to map close to the CADASIL locus. The fully developed CADASIL phenotype consists of recurrent strokes developing in the fourth decade, progressing to a pseudobulbar palsy, spastic quadriparesis, and subcortical dementia. In an Irish family 15 members were fully investigated by magnetic resonance scanning; 10 had typical magnetic resonance features of CADASIL. Five members of this family had familial hemiplegic migraine and 4 of these had magnetic resonance evidence of CADASIL. Two other members had migraine with and without aura as a presenting clinical symptom of CADASIL. This disorder has been shown by linkage analysis to map to the CADASIL locus at chromosome 19. The phenotype at presentation of CADASIL in this family was variable and age related and included familial hemiplegic migraine, migraine with and without aura, transient ischemic attacks, strokes, and spinal cord infarction. This family study increases our understanding of the spectrum of clinical manifestations of this underrecognized familial cerebrovascular disorder. 相似文献
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Primitive Neuroectodermal Tumors of the Central Nervous System 总被引:2,自引:0,他引:2
Lucy Balian Rorke M.D. John Q. Trojanowski M.D. Ph.D. Virginia MY Lee Ph.D. Robert A. Zimmerman M.D. Leslie N. Sutton M.D. Jaclyn A. Biegel Ph.D. Joel W. Goldwein M.D. Roger J. Packer M.D. 《Brain pathology (Zurich, Switzerland)》1997,7(2):765-784
Controversial issues relating to the pathobiology and classification of central nervous system primitive neuroectodermal tumors (PNETs) have plagued neuropathologists for more than 70 years. Hypotheses advanced in the mid-1920's have remained as fixed concepts in contemporary literature, largely consequent to repetitious support by a small number of neuropathologists despite a growing body of information discrediting these ideas from neuroembryologists, oncologists, neuroscien-tists and pathologists.
Attention has largely focused upon PNETs arising in the cerebellum (commonly known as medul-loblastomas [MBs]), because about 80% of central nervous system (CNS) PNETs originate in this site. It has been asserted that the 20% which do not are biologically different, although most individuals agree that the histological features of PNETs that occur in different sites throughout the CNS are indistinguishable from those growing in the cerebellum.
The historical aspects of this controversy are examined in the face of evidence that there is, in fact, a unique class of CNS tumors which should appropriately be regarded as primitive neuroectodermal in nature. Specifically, a number of different approaches to the problem have yielded data supporting this hypothesis. These approaches include the identification of patterns of expression among a variety of cellular antigens (demonstrated by the use of immunopathological techniques), molecular analyses of cell lines derived from these tumors, experimental production of PNETs and molecular genetic analyses.
Differences of opinion among surgeons, oncologists and radiotherapists are typically resolved by conducting cooperative studies of patients with these tumors who are diagnosed and treated at multiple centers. 相似文献
Attention has largely focused upon PNETs arising in the cerebellum (commonly known as medul-loblastomas [MBs]), because about 80% of central nervous system (CNS) PNETs originate in this site. It has been asserted that the 20% which do not are biologically different, although most individuals agree that the histological features of PNETs that occur in different sites throughout the CNS are indistinguishable from those growing in the cerebellum.
The historical aspects of this controversy are examined in the face of evidence that there is, in fact, a unique class of CNS tumors which should appropriately be regarded as primitive neuroectodermal in nature. Specifically, a number of different approaches to the problem have yielded data supporting this hypothesis. These approaches include the identification of patterns of expression among a variety of cellular antigens (demonstrated by the use of immunopathological techniques), molecular analyses of cell lines derived from these tumors, experimental production of PNETs and molecular genetic analyses.
Differences of opinion among surgeons, oncologists and radiotherapists are typically resolved by conducting cooperative studies of patients with these tumors who are diagnosed and treated at multiple centers. 相似文献
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Ursula R. Kees Jette Ford Pamela R. Ranford Susanne E. Peroni Jaclyn A. Biegel Annette H. Parmiter Lavinia A. Hallam Michael L. N. Willoughby Dominic Spagnolo 《Genes, chromosomes & cancer》1994,9(2):129-135
We have established two cell lines, PER-452 and PER-453, from an 8-month-old girl with an extensive pineoblastoma. Characterization of these lines revealed that the proto-oncogenes MYC and MYCN were not amplified, but both cell lines showed MYCN expression comparable to a cell line with 200-fold MYCN amplification. Both cell lines contained an i( 17q). These results support the concept that pineoblastomas belong to a larger group of primitive neuroectodermal tumors of the central nervous system. These two cell lines provide a unique opportunity to investigate the molecular genetic mechanisms underlying these neoplasms further. Genes Chrom Cancer 9:129-135 (1994).© 1994 Wiley-Liss, Inc. 相似文献
6.
Jaclyn YOONG Jo‐An SEAH Katherine HAMILTON Lee Na TEO Geoffrey CHONG 《Asia-Pacific Journal of Clinical Oncology》2012,8(4):325-329
Aims: Benefits to patients from systemic anti‐cancer therapies (SACT) occur at a cost of significant toxicities that can be life threatening. Published data of SACT mortality outside clinical trials is limited with no published Australia data. We aim to establish local outcomes at a regional Victorian oncology center to allow comparison with limited international data. Methods: An audit was undertaken at Ballarat Health Services to analyze all deaths occurring within 30 and 60 days of receiving SACT (cytotoxic chemotherapy and targeted therapy) for epithelial malignancies and hematological malignancies (excluding acute leukemia), over a 12‐month period. Hormonal therapy was excluded. Results: Between 1 January and 31 December 2008, 378 patients received SACT. In total 13 deaths (3.4%) occurred within 30 days following SACT. Three deaths (23%) were definitely treatment‐related – neutropenic sepsis, pneumocystis pneumonia and bowel perforation, respectively. Eight deaths (62%) were definitely unrelated to treatment. Most deaths were due to disease progression (six patients) For two patients (15%), the cause of death was unknown. Most patients were treated with palliative intent. Most patients were receiving first‐line treatment (seven patients, 50%). A further five deaths (1.3%) occurred 31–60 days after SACT, four of which were due to disease progression. Conclusion: Our local outcome data are comparable to limited current international data. This type of audit reviews local outcomes and identifies factors contributing to mortality in order to improve standards of care. We encourage similar audits to establish national benchmarks of 30‐day mortality rate. 相似文献
7.
Zain Chagla Natasha Aleksova Jaclyn Quirt Joel Emery Christian Kraeker Shariq Haider 《The Canadian Journal of Infectious Diseases & Medical Microbiology》2014,25(4):225-226
Melioidosis is an infection endemic to Southeast Asia and Northern Australia, and is associated with significant morbidity and mortality. The present report describes a case of chronic melioidosis in a returning traveller from the Philippines. Clinical suspicion of this illness is warranted in individuals with a history of travel to endemic regions. Safety in handling clinical specimens is paramount because laboratory transmission has been described. 相似文献
8.
Erika J. Wolf Ci-Di Chen Xiang Zhao Zhenwei Zhou Filomene G. Morrison Nikolaos P. Daskalakis Annjanette Stone Steven Schichman Jaclyn Garza Grenier Dana Fein-Schaffer Bertrand R. Huber Traumatic Stress Brain Research Group Carmela R. Abraham Mark W. Miller Mark W. Logue 《Neuropsychopharmacology》2021,46(4):721
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Atul Deodhar Manish Mittal Patrick Reilly Yanjun Bao Shivaji Manthena Jaclyn Anderson Avani Joshi 《Clinical rheumatology》2016,35(7):1769-1776
This study aimed to identify providers involved in diagnosing ankylosing spondylitis (AS) following back pain diagnosis in the USA and to identify factors leading to the delay in rheumatology referrals. The Truven Health MarketScan® US Commercial Database was searched for patients aged 18–64 years with back pain diagnosis in a non-rheumatology setting followed by AS diagnosis in any setting during January 2000–December 2012. Patients with a rheumatologist visit on or before AS diagnosis were considered referred. Cox regression was used to determine factors associated with referral time after adjusting for age, sex, comorbidities, physician specialty, drug therapy, and imaging procedures. Of 3336 patients included, 1244 (37 %) were referred to and diagnosed by rheumatologists; the others were diagnosed in primary care (25.7 %), chiropractic/physical therapy (7 %), orthopedic surgery (3.8 %), pain clinic (3.6 %), acute care (3.4 %), and other (19.2 %) settings. Median time from back pain diagnosis to rheumatology referral was 307 days and from first rheumatologist visit to AS diagnosis was 28 days. Referred patients were more likely to be younger (hazard ratio [HR]?=?0.986; p?<?0.0001), male (HR?=?1.15; p?=?0.0163), diagnosed with uveitis (HR?=?1.49; p?=?0.0050), referred by primary care physicians (HR?=?1.96; p?<?0.0001), prescribed non-steroidal anti-inflammatory drugs (HR?=?1.55; p?<?0.0001), disease-modifying antirheumatic drugs (HR?=?1.33; p?<?0.0001), and tumor necrosis factor inhibitors (HR?=?1.40; p?=?0.0036), and to have had spinal/pelvic X-ray prior to referral (HR?=?1.28; p?=?0.0003). During 2000–2012, most patients with AS were diagnosed outside of rheumatology practices. The delay before referral to rheumatology was 10 months; AS diagnosis generally followed within a month. Earlier referral of patients with AS signs and symptoms may lead to more timely diagnosis and appropriate treatment. 相似文献