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81.
H. Magnus Haraldsson Ulrich Ettinger Brynja B. Magnusdottir Andres Ingason Samuel B. Hutton Thordur Sigmundsson Engilbert Sigurdsson Hannes Petursson 《European archives of psychiatry and clinical neuroscience》2010,260(1):77-85
Neuregulin-1 (NRG-1) is a putative susceptibility gene for schizophrenia but the neurocognitive processes that may involve
NRG-1 in schizophrenia are unknown. Deficits in antisaccade (AS) and smooth pursuit eye movements (SPEM) are promising endophenotypes,
which may be associated with brain dysfunctions underlying the pathophysiology of schizophrenia. The aim of this study was
to investigate the associations of NRG-1 genotypes with AS and SPEM in schizophrenia patients and healthy controls. Patients (N = 113) and controls (N = 106) were genotyped for two NRG-1 single nucleotide polymorphisms (SNPs); SNP8NRG222662, a surrogate marker for the originally
described Icelandic NRG-1 risk haplotype, and SNP8NRG243177, which has recently been associated with individual differences
in brain function. Subjects underwent infrared oculographic assessment of AS and SPEM. The study replicates previous findings
of impaired AS and SPEM performance in schizophrenia patients (all P < 0.005; all d = 0.5–1.5). SNP8NRG243177 risk allele carriers had marginally increased variability of AS spatial error (P = 0.050, d = 0.3), but there were no significant genotype effects on other eye movement variables and no significant diagnosis-by-genotype
interactions. Generally, risk allele carriers (G allele for SNP8NRG222662 and T allele for SNP8NRG243177) had numerically
worse performance than non-carriers on most AS and SPEM variables. The results do not suggest that NRG-1 genotype significantly
affects AS and SPEM task performance. However, the power of the sample to identify small effects is limited and the possibility
of a type II error must be kept in mind. Larger samples may be needed to reliably investigate such gene effects on oculomotor
endophenotypes. 相似文献
82.
The uptake of 57Co-cyanocobalamin (CN-Cbl) and its conversion to 5- deoxyadenosylcobalamin (Ado-Cbl), methylcobalamin (Me-Cbl), and hydroxocobalamin (OH-Cbl) has been studied in phytohemagglutinin (PHA)- transformed lymphocytes from normal subjects and patients with patients with pernicious anemia. Uptake and conversion were much greater by PHA- stimulated lymphocytes than by mature non-transformed lymphocytes. In normal cells, uptake of 57Co-CN-Cbl and synthesis of the cobalamin coenzymes were approximately linear between 3 and 48 hr incubation. Ado- Cbl was the major cobalamin formed, and after 72 hr the cells contained about twice as much Ado-Cbl as Me-Cbl. Uptake by lymphocytes from patients with untreated pernicious anemia (PA) was greater than that by normal lymphocytes, but the proportions of Ado-Cbl and Me-Cbl synthesized by each were similar. Folic acid and methyltetrahydrofolate enhanced synthesis of Me-Cbl both in normal and in PA cells, while methotrexate and 5-fluorouracil depressed it. This depression was overcome by 5-formyltetrahydrofolate, suggesting that an uninterrupted folate cycle may play an important role in Me-Cbl synthesis. 相似文献
83.
Sullivan EV; Lim KO; Mathalon D; Marsh L; Beal DM; Harris D; Hoff AL; Faustman WO; Pfefferbaum A 《Cerebral cortex (New York, N.Y. : 1991)》1998,8(2):117-124
Quantitative magnetic resonance imaging (MRI) studies from our laboratory
have reported that patients with schizophrenia show a widespread cortical
gray matter volume deficit, which is especially pronounced in the
prefrontal and anterior superior temporal cortices. The present study
compared two separate samples of schizophrenic patients -- 71 men from a
Veterans Administration (VA) hospital and a sample of 57 severely ill men
from a state hospital (SH) -- in an effort to test whether the pattern of
brain volume abnormalities previously observed in VA schizophrenic patients
can be generalized to other groups of schizophrenic patients. MRI-derived
brain volumes of gray matter, white matter and sulcal cerebrospinal fluid
(CSF) in six cortical regions, and CSF in the lateral and third ventricles
were computed. All MRI volumes were adjusted for normal variation in head
size and age and were expressed as standardized Z-scores, which also
permitted structures of different sizes to be compared directly. The two
schizophrenic groups displayed similar patterns of volume abnormalities:
cortical gray matter but not white matter volume deficits that were
widespread but especially notable in the prefrontal and temporal regions.
The regional gray matter deficits in the SH group were generally greater
than those in the VA group, particularly in the prefrontal and posterior
superior temporal regions. Both schizophrenic groups had abnormally large
volumes of the cortical sulci and lateral and third ventricles; however,
the SH group showed greater enlargements, the most prominent occurring in
the ventricles and temporal sulci. The overlapping patterns of cortical
gray matter deficits in the two groups provide evidence for generality of
this pattern of regional brain volume abnormalities in schizophrenia.
相似文献
84.
Catechol-O-methyltransferase Val 158 Met polymorphism and antisaccade eye movements in schizophrenia
Haraldsson HM Ettinger U Magnusdottir BB Sigmundsson T Sigurdsson E Ingason A Petursson H 《Schizophrenia bulletin》2010,36(1):157-164
The catechol-O-methyltransferase (COMT) enzyme catabolizes dopamine. The val(158)met single nucleotide polymorphism (rs4680) in the COMT gene has received considerable attention as a candidate gene for schizophrenia as well as for frontally mediated cognitive functions. Antisaccade performance is a good measure of frontal lobe integrity. Deficits on the task are considered a trait marker for schizophrenia. The aim of this study was to investigate the association of COMT val(158)met polymorphism with antisaccade eye movements in schizophrenia patients and healthy controls. Schizophrenia patients (N = 105) and healthy controls (N = 95) underwent infrared oculographic assessment of antisaccades. Subjects were genotyped for COMT val(158)met and divided into 3 groups according to genotype (val/val, val/met, and met/met). Patients displayed significantly more reflexive errors, longer and more variable latency, and lower amplitude gain than controls (all P < 0.02). A greater number of val(158) alleles was associated with shorter (P = 0.045) and less variable (P = 0.028) antisaccade latency and, nonsignificantly, with lower reflexive error rate (P = 0.056). None of these variables showed a group-by-genotype interaction (P > 0.1). There were no significant associations of genotype with measures of amplitude gain or spatial error (P > 0.2). The results suggest that COMT val(158) carrier status is associated with better performance on the antisaccade task. Possible explanations of this finding are discussed. 相似文献
85.
Surgical cholecystectomy is associated with a high morbidity and mortality in elderly patients with acute calculous cholecystitis and underlying cardiac or pulmonary disease. Currently there are few alternatives for treating these patients. The authors have used percutaneous cholecystolithotomy in 11 such high-risk patients for definitive treatment of gallbladder calculi. In all 11 patients all stones were successfully removed from the gallbladder and cystic duct. The entire procedure--from initial tube placement to final tube removal--lasted 17-40 days (mean, 21 days). There were two complications: one minor--local wound infection--and one major--bile peritonitis with eventual death. Percutaneous cholecystolithotomy is an effective alternative therapy for acute calculous cholecystitis in elderly, debilitated patients. 相似文献
86.
87.
Magnusdottir H 《International nursing review》2005,52(4):263-269
BACKGROUND: This paper presents a study that explored the lived experience of foreign nurses working at hospitals in Iceland. AIM: The aim was to generate an understanding of this experience both for local and international purposes. METHOD: The methodology that guided the study was the Vancouver school of doing phenomenology. Sampling was purposeful and consisted of 11 registered nurse from seven countries. The data were collected in dialogues; the analyses were thematic. FINDINGS: The findings are presented in five main themes that describe the essence of the experience with the overall theme of 'Growing through experiencing strangeness and communication barriers'. The first theme portrays how the nurses met and tackled the multiple initial challenges. One of the challenges, described in the second theme, was becoming outsiders and needing to be let in. The third theme explores the language barrier the nurses encountered and the fourth theme the different work culture. The fifth then illuminates how the nurses finally overcame these challenges and won through. CONCLUSION: The findings and their international context suggest the importance of language for personal and professional well-being and how language and culture are inseparable entities. 相似文献
88.
89.
90.
We recently reported the positional cloning of a homeobox gene involved in
the pathogenesis of Rieger syndrome, RIEG1 , and its mouse homolog, Rieg1 .
Rieg1 (also independently described as Pitx2) is highly homologous to the
Ptx1/Potx gene product, suggesting that there may be additional members of
this novel Pitx family. The Pitx genes play an important role in eye,
tooth, pituitary and umbilical region development as evidenced by Rieger
syndrome and iris hypoplasia phenotypes, resulting from mutations in the
RIEG1 gene and by expression studies. In order to characterize further the
Pitx gene family we searched mouse cDNA libraries to identify additional
members. A new gene was isolated which encodes a homeoprotein with strong
homology to the other Pitx proteins and 97-100% identity in the homeodomain
itself, suggesting that this is a third member of the family, Pitx3 . In
whole mount in situ hybridization on mouse embryos ranging from 8.5 to 11.5
days post-coitum (d.p.c.), Pitx3 mRNA was seen only in the developing lens
starting at day 11. Hybridization on cross- sections revealed strong
signals in the lens vesicle in 11 d.p.c. embryos and throughout the lens,
particularly in the anterior epithelium and equator region in 15 d.p.c.
embryos. Pitx3 was mapped close to aphakia on mouse chromosome 19. The
aphakia homozygous mouse is characterized by small eyes lacking a lens,
which fail to develop beyond 11 d.p.c. These data make Pitx3 a strong
candidate gene for the aphakia phenotype in the mouse and suggest a role
for the human homolog in congenital lens malformations.
相似文献