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991.
992.
Andrey V. Marakhonov Andreas Brodehl Roman P. Myasnikov Peter A. Sparber Anna V. Kiseleva Olga V. Kulikova Alexey N. Meshkov Anastasia A. Zharikova Serguey N. Koretsky Maria S. Kharlap Caroline Stanasiuk Elena A. Mershina Valentin E. Sinitsyn Alexey O. Shevchenko Natalia P. Mozheyko Oksana M. Drapkina Sergey A. Boytsov Hendrik Milting Mikhail Yu. Skoblov 《Human mutation》2019,40(6):734-741
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated with left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis in a family, with two individuals presenting LVHT with conduction disease and skeletal myopathy. The genetic analysis revealed a novel small in‐frame deletion within the DES gene, p.Q113_L115del, affecting the α‐helical rod domain. Immunohistochemistry analysis of explanted myocardial tissue from the index patient revealed an abnormal cytoplasmic accumulation of desmin and a degraded sarcomeric structure. Cell transfection experiments with wild‐type and mutant desmin verified the cytoplasmic aggregation and accumulation of mutant desmin. Cotransfection experiments were performed to model the heterozygous state of the patients and revealed a dominant negative effect of the mutant desmin on filament assembly. DES:p.Q113_L115del is classified as a pathogenic mutation associated with dilated cardiomyopathy with prominent LVHT. 相似文献
993.
Blanca Molina Marta Gonzalez Vicent Blanca Herrero Natalia Deltoro Julia Ruiz Antonio Perez Martinez Miguel A Diaz 《Biology of blood and marrow transplantation》2019,25(1):100-106
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an established treatment for high-risk hematological malignancies in the pediatric population, but relapse remains the leading cause of death. We analyzed risk factors associated with relapse.Data from 353 allo-HSCTs from 1989 to 2015 in our center were studied retrospectively. We performed a multivariate analysis of pre- and postransplantation variables and developed a predictive risk score for relapse using the significant factors in this training cohort. The results were confirmed in a validation cohort of 90 allo-HSCTs done in our institution from 2016 to the present.A total of 104 patients relapsed after allo-HSCT, with a relapse cumulative incidence of 31 ± 2%. In multivariate analysis, only 2 variables influenced relapse: disease phase (advanced versus early, HR, 2.84; 95% CI, 1.76 to 4.57; P?=?.001) and presence of chronic graft-versus-host disease (GVHD) (acute GVHD versus chronic GVHD [HR, 4.27; 95% CI, 1.99 to 9.15; P?=?.0001] and no GVHD versus chronic GVHD [HR, 6.86; 95% CI, 3.63 to 12.97] P?=?.0001]. Applying the personalized risk score (0 to 3), the relapse cumulative incidence was 70 ± 5% in patients with a score of 3 (without GVHD and in the advanced phase) compared with 6 ± 4% in patients with a score of 0 (with chronic GVHD and in an early phase). This score has been verified in the validation set. With a median follow-up of 54 months, the disease-free survival (DFS) and overall survival rate were 37 ± 3% and 45 ± 4%, respectively.The association of GVHD with the graft-versus-leukemia effect is clearly established in our study, and the form of GVHD associated with less relapse and the best DFS is the classical form of chronic GVHD according to the National Institutes of Health classification. The proposed relapse risk score was validated in an independent cohort and allows personalization of the prognosis. 相似文献
994.
Marta Flisiak-Jackiewicz Anna Bobrus-Chociej Natalia Wasilewska Eugeniusz Tarasow Malgorzata Wojtkowska Dariusz Marek Lebensztejn 《Advances in medical sciences》2019,64(2):280-284
PurposeHepatokines are proteins produced by the liver and involved in regulating glucose and lipid metabolism. However, their role as the biomarkers of intrahepatic lipid content is not clear. The aim of the study was to evaluate the serum concentration of selected hepatokines: fibroblast growth factor-21 (FGF-21), selenoprotein P (SELENOP) and sex hormone-binding globulin (SHBG) in obese children.Patients and methodsThe cross-sectional study included 86 obese children with suspected liver disease. Nonalcoholic fatty liver disease (NAFLD) was diagnosed in children with liver steatosis in ultrasound with elevated alanine aminotransferase (ALT) serum activity and excluded other liver diseases. The total intrahepatic lipid content (TILC) was assessed by magnetic resonance proton spectroscopy (1H-MRS).ResultsThe concentration of FGF-21 and SELENOP was significantly higher and SHBG significantly lower in children with NAFLD compared to controls. Only FGF-21 level was significantly higher in NAFLD children than in obese patients without NAFLD. The significant positive correlation of FGF-21 with ALT, gamma glutamyltransferase (GGT), triglycerides, homeostatic model assessment–insulin resistance (HOMA-IR), the degree of liver steatosis in ultrasound and TILC in 1H-MRS were found. The ability of serum FGF-21 to diagnose severe liver steatosis was significant.ConclusionsFGF-21 can be considered as a suitable biomarker in predicting TILC and fatty liver in obese children. 相似文献
995.
996.
Magdalena Krygier Mariusz Kwarciany Krystyna Wasilewska Victor Murcia Pienkowski Natalia Krawczyńska Daniel Zielonka Joanna Kosińska Piotr Stawinski Monika Rudzińska-Bar Magdalena Boczarska-Jedynak Bartosz Karaszewski Janusz Limon Jarosław Sławek Rafał Płoski Małgorzata Rydzanicz 《Clinical genetics》2019,95(3):415-419
Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed a next-generation sequencing (NGS) analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay, POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. In addition, we found a novel homozygous MTCL1 loss of function variant p.(Lys407fs) in a 23-year-old patient with slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs. The identified variant is predicted to truncate the protein after first 444 of 1586 amino acids. MTCL1 encodes a microtubule-associated protein highly expressed in cerebellar Purkinje cells; its knockout in a mouse model causes ataxia. We propose MTCL1 as a candidate gene for autosomal recessive cerebellar ataxia in humans. In addition, our study confirms the high diagnostic yield of NGS in early-onset cerebellar ataxias, with at least 50% detection rate in our ataxia cohort. 相似文献
997.
Wenshu Luo Matteo Egger Andor Domonkos Lin Que David Lukacsovich Natalia Andrea Cruz-Ochoa Szilrd Szcs Charlotte Seng Antnia Arszovszki Eszter Sipos Irmgard Amrein Jochen Winterer Tams Lukacsovich Jnos Szabadics David P. Wolfer Csaba Varga Csaba Fldy 《Proceedings of the National Academy of Sciences of the United States of America》2021,118(40)
998.
Antony R. Crofts Sangjin Hong Natalia Ugulava Blanca Barquera Robert Gennis Mariana Guergova-Kuras Edward A. Berry 《Proceedings of the National Academy of Sciences of the United States of America》1999,96(18):10021-10026
Quinol oxidation by the bc(1) complex of Rhodobacter sphaeroides occurs from an enzyme-substrate complex formed between quinol bound at the Q(o) site and the iron-sulfur protein (ISP) docked at an interface on cytochrome b. From the structure of the stigmatellin-containing mitochondrial complex, we suggest that hydrogen bonds to the two quinol hydroxyl groups, from Glu-272 of cytochrome b and His-161 of the ISP, help to stabilize the enzyme-substrate complex and aid proton release. Reduction of the oxidized ISP involves H transfer from quinol. Release of the proton occurs when the acceptor chain reoxidizes the reduced ISP, after domain movement to an interface on cytochrome c(1). Effects of mutations to the ISP that change the redox potential and/or the pK on the oxidized form support this mechanism. Structures for the complex in the presence of inhibitors show two different orientations of Glu-272. In stigmatellin-containing crystals, the side chain points into the site, to hydrogen bond with a ring hydroxyl, while His-161 hydrogen bonds to the carbonyl group. In the native structure, or crystals containing myxothiazol or beta-methoxyacrylate-type inhibitors, the Glu-272 side chain is rotated to point out of the site, to the surface of an external aqueous channel. Effects of mutation at this residue suggest that this group is involved in ligation of stigmatellin and quinol, but not quinone, and that the carboxylate function is essential for rapid turnover. H(+) transfer from semiquinone to the carboxylate side chain and rotation to the position found in the myxothiazol structure provide a pathway for release of the second proton. 相似文献
999.
1000.
Claudia Lucia Sossa Melo Carlos Alberto Orozco Orozco Angela Maria Pea Castellanos Maria Alejandra Rueda Perea Cristian Orlando Porras Bueno Carlos Ivan Romero Diaz Helga Natalia Rojas Rodríguez 《Clinical Case Reports》2021,9(11)
We report the case of a patient who was initially presented with ischemic priapism to the emergency department. He was treated with adrenaline intracavernous injections and aspiration with irrigation of the corpora cavernosa and distal shunt. In the postoperative period, anemia, basophilia, eosinophilia, thrombocytosis and hyperleukocytosis were detected. The patient was subsequently diagnosed with chronic myeloid leukemia.Priapism is a rare manifestation of chronic myeloid leukemia (≤ 3%) and occurs mostly due to hyperleukocytosis, resulting in thrombus formation and corporal venous outflow obstruction. Priapism occurring in any setting is considered as a medical emergency that requires immediate local therapy because of resulting irreversible cell damage and fibrosis if not treated within the first 24–48 h. 相似文献