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排序方式: 共有312条查询结果,搜索用时 15 毫秒
1.
Moog R 《Stem cells and development》2004,13(4):357-361
New advances in apheresis technology allow for the safe and efficient collection of peripheral progenitor cells (PPC). Two blood cell separators were compared with respect to separation results such as PPC yield and contamination of the products. A total of 11 patients (6 multiple myeloma, 4 non-Hodgkin lymphoma, and 1 medulloblastoma) underwent PPC collections with either the Amicus (Baxter) or AS. TEC (Fresenius) blood cell separator. PPC were mobilized by chemotherapy and granulocyte colony-stimulating factor (G-CSF) application. Blood counts were determined before and after apheresis as well as in the PPC product. CD34 antigen-expressing cells were measured in the peripheral blood and in the PPC product by flow cytometry. Median baseline CD34 antigen-expressing cells were higher in patients undergoing PPC collection with the Amicus device. More PPC/kg of body weight were collected with this machine (5.3 x 10(6)/kg body weight versus 1.7 x 10(6) in the AS. TEC). The median volume was 129 ml (range 80-156 ml) for Amicus products and 111 ml (range 66-202 ml) for the AS. TEC, respectively. The median platelet contamination of the products from the Amicus blood cell separator was significantly lower than in products from the AS. TEC machine (0.17 x 10(11) versus 0.65 x 10(11), p < 0.001). The data show that a higher yield of PPC was collected with the Amicus machine. The platelet contamination of the products obtained from the two blood cells separators was significantly different. 相似文献
2.
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 总被引:2,自引:0,他引:2
Ute Moog Eric E J Smeets Kees E P van Roozendaal Sam Schoenmakers Jos Herbergs Anneke M J Schoonbrood-Lenssen Connie T R M Schrander-Stumpel 《European journal of paediatric neurology》2003,7(1):5-12
Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed. 相似文献
3.
I Talon F Becmeur I Kauffmann R Moog A Schultz S Grandadam 《Archives de pédiatrie》2006,13(4):361-363
We report on the case of a 9-year-old girl who presented vaginal bleeding which led to the diagnosis of vaginal hemangioma. Such localisation is rare, and requires a clinical follow-up by vaginoscopy. A spontaneous regression can be expected but, at this time, the progress of puberty and future fertility are unknown. 相似文献
4.
Most methods for quality control of white blood cell (WBC) depletion in blood products are based on flow cytometric techniques. Nearly all commercial kits are based on propidium iodide staining of the DNA and subsequently counting those DNA based events as residual WBC. Here, we could show that a substantial proportion of those events are derived from nucleated red blood cells and therefore not specific for WBCs (e.g. in erythrocyte products 30%). We developed a flow cytometric method for residual WBC counting applying simultaneous DNA- and WBC-specific surface staining to enable this. 相似文献
5.
6.
Annette Voellmin Sonja Entringer Nora Moog Pathik D. Wadhwa Claudia Buss 《Journal of psychosomatic research》2013
Objective
The association between maternal psychological state during pregnancy and birth outcomes is well established. The focus of previous studies has been on the potentially detrimental consequences of maternal stress on pregnancy and birth outcomes, particularly shortened gestation and increased risk of preterm birth. Despite a growing literature linking positive affect with favorable health outcomes this construct has received little attention in the context of pregnancy. Therefore, in the current study, we tested the hypothesis that maternal positive affect during pregnancy is associated with beneficial consequences in terms of increased length of gestation and reduced risk of preterm birth above that of the absence of stress.Methods
In 169 pregnant women maternal positive affect and perceived stress were serially assessed at 15.2±0.9 weeks (T1; mean ± SD), 19.7 ± 0.9 weeks (T2) and 30.7 ± 0.7 weeks (T3) gestation. Pregnancy and birth outcomes were abstracted from the medical record.Results
Higher maternal positive affect and a steeper increase in maternal positive affect over pregnancy were positively associated with length of gestation (p < .05) and reduced risk of preterm delivery (p < .01), whereas maternal perceived stress was not significantly associated with shorter length of gestation (p > .10).Conclusions
These findings suggest that maternal positive affect may be beneficial for outcomes related to the length gestation, and that this effect cannot be accounted for by the lower stress levels associated with higher positive affect. Interventions to increase maternal positive affect may be beneficial for fetal development. 相似文献7.
Alejandro H. González Pablo S. Rivadeneira Antonio Ferramosca Nicolas Magdelaine Claude H. Moog 《Optimal control applications & methods.》2020,41(6):2115-2136
In this work, the problem of regulating blood glucose (glycemia) in type I diabetic patients is studied by means of an impulsive zone model predictive control (iZMPC), which bases its predictions on a novel long-term glucose-insulin model. Taking advantage of the impulsive version of the model—which features real-life properties of diabetes patients that some other popular models do not—the given control guarantees the stability under moderate-to-severe plant-model mismatch and disturbances. Long-term scenarios—including meals and physiological parameter variations—are simulated and the results are satisfactory as every hyperglycemic and hypoglycemic episodes are suitably controlled. 相似文献
8.
9.
Andreas Tzschach Ute Grasshoff Stefanie Beck-Woedl Claudia Dufke Claudia Bauer Martin Kehrer Christina Evers Ute Moog Barbara Oehl-Jaschkowitz Nataliya Di Donato Robert Maiwald Christine Jung Alma Kuechler Solveig Schulz Peter Meinecke Stephanie Spranger Jürgen Kohlhase J?rg Seidel Silke Reif Manuela Rieger Angelika Riess Marc Sturm Julia Bickmann Christopher Schroeder Andreas Dufke Olaf Riess Peter Bauer 《European journal of human genetics : EJHG》2015,23(11):1513-1518
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has hitherto hampered the systematic screening of large patient cohorts. We performed targeted enrichment and next-generation sequencing of 107 XLID genes in a cohort of 150 male patients. Hundred patients had sporadic intellectual disability, and 50 patients had a family history suggestive of XLID. We also analysed a sporadic female patient with severe ID and epilepsy because she had strongly skewed X-inactivation. Target enrichment and high parallel sequencing allowed a diagnostic coverage of >10 reads for ~96% of all coding bases of the XLID genes at a mean coverage of 124 reads. We found 18 pathogenic variants in 13 XLID genes (AP1S2, ATRX, CUL4B, DLG3, IQSEC2, KDM5C, MED12, OPHN1, SLC9A6, SMC1A, UBE2A, UPF3B and ZDHHC9) among the 150 male patients. Thirteen pathogenic variants were present in the group of 50 familial patients (26%), and 5 pathogenic variants among the 100 sporadic patients (5%). Systematic gene dosage analysis for low coverage exons detected one pathogenic hemizygous deletion. An IQSEC2 nonsense variant was detected in the female ID patient, providing further evidence for a role of this gene in encephalopathy in females. Skewed X-inactivation was more frequently observed in mothers with pathogenic variants compared with those without known X-linked defects. The mutation rate in the cohort of sporadic patients corroborates previous estimates of 5–10% for X-chromosomal defects in male ID patients. 相似文献
10.