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91.
Pekka Jaako Shubhranshu Debnath Karin Olsson Ute Modlich Michael Rothe Axel Schambach Johan Flygare Stefan Karlsson 《Haematologica》2014,99(12):1792-1798
Diamond-Blackfan anemia is a congenital erythroid hypoplasia caused by functional haploinsufficiency of genes encoding ribosomal proteins. Mutations involving the ribosomal protein S19 gene are detected in 25% of patients. Enforced expression of ribosomal protein S19 improves the overall proliferative capacity, erythroid colony-forming potential and erythroid differentiation of hematopoietic progenitors from ribosomal protein S19-deficient patients in vitro and in vivo following xenotransplantation. However, studies using animal models are needed to assess the therapeutic efficacy and safety of the viral vectors. In the present study we have validated the therapeutic potential of gene therapy using mouse models of ribosomal protein S19-deficient Diamond-Blackfan anemia. Using lentiviral gene transfer we demonstrated that enforced expression of ribosomal protein S19 cures the anemia and lethal bone marrow failure in recipients transplanted with ribosomal protein S19-deficient cells. Furthermore, gene-corrected ribosomal protein S19-deficient cells showed an increased pan-hematopoietic contribution over time compared to untransduced cells without signs of vector-mediated toxicity. Our study provides a proof of principle for the development of clinical gene therapy to cure ribosomal protein 19-deficient Diamond-Blackfan anemia. 相似文献
92.
Efstathios Kastritis Ashutosh Wechalekar Stefan Schönland Vaishali Sanchorawala Giampaolo Merlini Giovanni Palladini Monique Minnema Murielle Roussel Arnaud Jaccard Ute Hegenbart Shaji Kumar Maria T. Cibeira Joan Blade Meletios A. Dimopoulos 《British journal of haematology》2020,190(3):346-357
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-associated coronavirus disease 2019 (COVID-19) is primarily manifested as a respiratory tract infection, but may affect and cause complications in multiple organ systems (cardiovascular, gastrointestinal, kidneys, haematopoietic and immune systems), while no proven specific therapy exists. The challenges associated with COVID-19 are even greater for patients with light chain (AL) amyloidosis, a rare multisystemic disease affecting the heart, kidneys, liver, gastrointestinal and nervous system. Patients with AL amyloidosis may need to receive chemotherapy, which probably increases infection risk. Management of COVID-19 may be particularly challenging in patients with AL amyloidosis, who often present with cardiac dysfunction, nephrotic syndrome, neuropathy, low blood pressure and gastrointestinal symptoms. In addition, patients with AL amyloidosis may be more susceptible to toxicities of drugs used to manage COVID-19. Access to health care may be difficult or limited, diagnosis of AL amyloidosis may be delayed with detrimental consequences and treatment administration may need modification. Both patients and treating physicians need to adapt in a new reality. 相似文献
93.
Ute Thyen Anke Lux Martina Jürgensen Olaf Hiort Birgit Köhler 《Journal of general internal medicine》2014,29(3):752-759
BACKGROUND
Disorders of sex development (DSD) are a heterogeneous group of rare genetic disorders of sex determination or differentiation. Evidence-based guidelines concerning gender assignment and surgical and hormonal treatment are limited for many DSD entities, and health care is highly fragmented across various sub-specialties and settings. A lack of informed consent, secrecy about the condition, shame, and impaired sexual and psychosocial functioning may affect satisfaction with care.OBJECTIVES
The main goal of this study was to describe satisfaction with care in individuals with DSD and to identify factors associated with low satisfaction with care.METHODS / MAIN MEASURES
Using both biological (chromosomes) and social categories (sex of rearing), we classified participants according to the nomenclature of the European Society for Pediatric Endocrinology/Lawson Wilkins Pediatric Endocrine Society (ESPE/LWPES) consensus statement. We used standardized measures to assess satisfaction with care (CSQ-8), health-related quality of life (SF-36), psychological symptoms (BSI), and gender identity (FGI), in addition to self-constructed questionnaires probing experiences with health care and access to self-help groups.PARTICIPANTS
A total of 110 adults were recruited between January 2005 and December 2007 in four study centers in Germany, Austria, and German-speaking Switzerland.RESULTS
Reports of half the participants scored below the cut-off indicating low quality of care. Women with XX DSD conditions and virilization (i.e., congenital adrenal hyperplasia) reported the highest scores for satisfaction with care, and women with XY DSD conditions and complete lack of androgen effects reported the lowest scores. Satisfaction with care was positively associated with indicators of psychological well-being.CONCLUSIONS
Satisfaction with care is lowest among participants with the rarest conditions, highlighting the lack of evidence-based recommendations and the lack of coordination of care. Associations of satisfaction and well-being indicate the need to ensure access to mental health services.94.
Arijit Biswas Vytautas Ivaskevicius Anne Thomas Michael Varvenne Brigitte Brand Hannelore Rott Iris Haussels Heiko Ruehl Ute Scholz Robert Klamroth Johannes Oldenburg 《Annals of hematology》2014,93(10):1665-1676
Mild FXIII deficiency is an under-diagnosed disorder because the carriers of this deficiency are often asymptomatic and reveal a phenotype only under special circumstances like surgery or induced trauma. Mutational reports from this type of deficiency have been rare. In this study, we present the phenotypic and genotypic data of nine patients showing mild FXIII-A deficiency caused by eight novel heterozygous missense mutations (Pro166Leu, Arg171Gln, His342Tyr, Gln415Arg, Leu529Pro, Gln601Lys, Arg703Gln and Arg715Gly) in the F13A1 gene. None of these variants were seen in 200 healthy controls. In silico structural analysis of the local wild-type protein structures (activated and non-activated) from X-ray crystallographic models downloaded from the protein databank identified potential structural/functional effects for the identified mutations. The missense mutations in the core domain are suggested to be directly influencing the catalytic triad. Mutations on other domains might influence other critical factors such as activation peptide cleavage or the barrel domain integrity. In vitro expression and subsequent biochemical studies in the future will be able to confirm the pathophysiological mechanisms proposed for the mutations in this article. 相似文献
95.
Walter Fiedler Joerg Chromik Stefanie Amberg Maxim Kebenko Felicitas Thol Vera Schlipfenbacher Anne Christine Wilke Franziska Modemann Melanie Janning Hubert Serve Arnold Ganser Carsten Bokemeyer Susann Theile Ute Deppermann Anne L. Kranich Michael Heuser 《British journal of haematology》2020,190(3):e169-e173
96.
Serif Senturk Zhan Yao Matthew Camiolo Brendon Stiles Trushar Rathod Alice M. Walsh Alice Nemajerova Matthew J. Lazzara Nasser K. Altorki Adrian Krainer Ute M. Moll Scott W. Lowe Luca Cartegni Raffaella Sordella 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(32):E3287-E3296
97.
98.
Attention‐network specific alterations of structural connectivity in the undamaged white matter in acute neglect
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Roza M. Umarova Marco Reisert Tanja‐Ute Beier Valerij G. Kiselev Stefan Klöppel Christoph P. Kaller Volkmar Glauche Irina Mader Lena Beume Jürgen Hennig Cornelius Weiller 《Human brain mapping》2014,35(9):4678-4692
Visual neglect results from dysfunction within the spatial attention network. The structural connectivity in undamaged brain tissue in neglect has barely been investigated until now. In the present study, we explored the microstructural white matter characteristics of the contralesional hemisphere in relation to neglect severity and recovery in acute stroke patients. We compared age‐matched healthy subjects and three groups of acute stroke patients (9 ± 0.5 days after stroke): (i) patients with nonrecovered neglect (n = 12); (ii) patients with rapid recovery from initial neglect (within the first week post‐stroke, n = 7), (iii) stroke patients without neglect (n = 17). We analyzed the differences between groups in grey and white matter density and fractional anisotropy (FA) and used fiber tracking to identify the affected fibers. Patients with nonrecovered neglect differed from those with rapid recovery by FA‐reduction in the left inferior parietal lobe. Fibers passing through this region connect the left‐hemispheric analogues of the ventral attention system. Compared with healthy subjects, neglect patients with persisting neglect had FA‐reduction in the left superior parietal lobe, optic radiation, and left corpus callosum/cingulum. Fibers passing through these regions connect centers of the left dorsal attention system. FA‐reduction in the identified regions correlated with neglect severity. The study shows for the first time white matter changes within the spatial attention system remote from the lesion and correlating with the extent and persistence of neglect. The data support the concept of neglect as disintegration within the whole attention system and illustrate the dynamics of structural‐functional correlates in acute stroke. Hum Brain Mapp 35:4678–4692, 2014. © 2014 Wiley Periodicals, Inc . 相似文献
99.
Sebastian Kummer Andreas Venghaus Andrea Schlune Barbara Leube Thomas Eggermann Ute Spiekerkoetter 《Pediatric nephrology (Berlin, Germany)》2014,29(1):155-159
Background
Cystinuria is an inherited disorder of a renal tubular amino acid transporter and leads to increased cystine excretion with the risk of urinary stone formation. Phenotypical classification is based on urinary amino acid concentration as type I (silent), type non-I (hyper-excretors), mixed or untyped. Genotypic classification is based on mutations in SLC3A1 (type A) or SLC7A9 (type B).Case-Diagnosis/Treatment
We present six family members with a complex phenotypic profile based on mutations in both genes. The index patient presents a known homozygous mutation (p.T189M) in SLC3A1 and a homozygous mutation (c.225C?>?T) in SLC7A9. Based on a bioinformatics analysis and published findings, we considered p.T189M to be pathogenic and initially classified c.225C?>?T as a silent variant. However, segregation analysis detected homozygosity for p.T189M also in non-affected individuals, whereas homozygous c.225C?>?T segregated with the phenotype. RNA studies confirmed c.225C?>?T to cause aberrant splicing.Conclusions
Based on our findings, we conclude that c.225C?>?T in SLC7A9 determines the clinical phenotype in this family, whereas additional SLC3A1 mutations aggravate the phenotype in heterozygotes for c.225C?>?T in SLC7A9 without resulting in cystinuria in the homozygous state. Our results underline the need for careful biochemical characterization of family members of an index case of cystinuria. Genetic analysis of both cystinuria genes may be necessary due to the synergistic effects of mutations in two genes. 相似文献100.
Cécile R. L. Boot Sheilah Hogg-Johnson Ute Bültmann Ben C. Amick III Allard J. van der Beek 《International archives of occupational and environmental health》2014,87(8):871-879