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121.
Stensland E Lindal S Jonsrud C Torbergsen T Bindoff LA Rasmussen M Dahl A Thyssen F Nilssen Ø 《Neuromuscular disorders : NMD》2011,21(1):41-46
Mutations in the FKRP (Fukutin Related Protein) gene produce a range of phenotypes including Limb Girdle Muscular Dystrophy Type 2I (LGMD2I). In order to investigate the prevalence, the mutation spectrum and possible genotype-phenotype correlation, we studied a cohort of Norwegian patients with LGMD2I, ascertained in a 4-year period.In this retrospective study of genetically tested patients, we identified 88 patients from 69 families, who were either homozygous or compound heterozygous for FKRP mutations. This gives a minimum prevalence of 1/54,000 and a corresponding carrier frequency of 1/116 in the Norwegian population. Seven different FKRP mutations, including three novel changes, were detected. Seventy-six patients were homozygous for the common c.826C>A mutation. These patients had later disease onset than patients who were compound heterozygous - 14.0 vs. 6.1 years. We detected substantial variability in disease severity among homozygous patients. 相似文献
122.
Jesse S Brettschneider J Süssmuth SD Landwehrmeyer BG von Arnim CA Ludolph AC Tumani H Otto M 《Journal of neurology》2011,258(6):1034-1041
In neurodegenerative diseases, cerebrospinal fluid analysis (CSF) is predominantly performed to exclude inflammatory diseases
and to perform a risk assessment in dementive disorders by measurement of tau proteins and amyloid beta peptides. However,
large scale data on basic findings of CSF routine parameters are generally lacking. The objective of the study was to define
a normal reference spectrum of routine CSF parameters in neurodegenerative diseases. Routine CSF parameters (white cell count,
lactate and albumin concentrations, CSF/serum quotients of albumin (Q
alb), IgG, IgA, IgM, and oligoclonal IgG bands (OCB)) were retrospectively analyzed in an academic research setting. A total
of 765 patients (Alzheimer’s disease (AD), Parkinson’s disease (PD), Parkinson’s disease dementia (PDD), vascular dementia
(VD), frontotemporal lobar degeneration (FTLD), progressive supranuclear palsy (PSP), multisystem atrophy (MSA), motor neuron
diseases (MND), spinocerebellar ataxia (SCA), Huntington’s disease (HD)) and non-demented control groups including a group
of patients with muscular disorders (MD). The main outcome measures included statistical analyses of routine CSF parameters.
Mildly elevated Q
alb were found in a small percentage of nearly all subgroups and in a higher proportion of patients with PSP, MSA, VD, PDD, and
MND. With the exception of 1 MND patient, no intrathecal Ig synthesis was observed. Isolated OCBs in CSF were sometimes found
in patients with neurodegenerative diseases without elevated cell counts; lactate levels were always normal. A slightly elevated
Q
alb was observed in a subgroup of patients with neurodegenerative diseases and does not exclude the diagnosis. Extensive elevation
of routine parameters is not characteristic and should encourage a re-evaluation of the clinical diagnosis. 相似文献
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Christin Gasch Peter Ulz Sigurd Lax Julie Waldispuehl‐Geigl Oliver Mauermann Sumitra Mohan Gunda Pristauz Carolin Lackner Gerald Höfler Florian Eisner Edgar Petru Heinz Sill Hellmut Samonigg Klaus Pantel Sabine Riethdorf Thomas Bauernhofer Jochen B. Geigl Michael R. Speicher 《International journal of cancer. Journal international du cancer》2013,133(2):346-356
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Richtig E Berghold A Schwantzer G Ott A Wölfelmaier F Karner B Ludwig R Denk H Stering R Leitner G Lax S Okcu M Gerger A Kerl H Smolle J 《Dermatology (Basel, Switzerland)》2007,214(3):246-252
BACKGROUND: Melanoma incidence rates vary within Europe. The highest incidences are reported in Scandinavia, the lowest in the southern parts, but incidences themselves also vary within the different countries. OBJECTIVE: We investigated the incidence of invasive cutaneous melanoma in Styria, a province of Austria, in the years 2001-2003. METHODS: Data from 1,082 patients, 511 males and 571 females (mean age 58.2 years) with primary melanoma were collected. For each patient, information regarding residence was available, and therefore the geographic distribution of melanoma on district level was investigated with particular reference to the mean number of sun hours, mean altitude, number of companies with more than 200 employees and median income. RESULTS: The mean annual incidence (age-standardized rate) was 24.5 per 100,000 (95% CI: 22.4-26.6), lifetime risk 1 in 52. Districts with a higher number of sun hours and higher altitude showed lower melanoma incidences. Higher median income was associated with higher melanoma incidence (p<0.001). CONCLUSION: The high incidence of invasive melanoma in Styria is unclear and a causal relationship between higher income and melanoma incidence remains speculative. Further investigations, especially concerning lifestyle and environmental factors, may unravel additional causative factors. 相似文献