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排序方式: 共有9805条查询结果,搜索用时 15 毫秒
111.
Claudia Brogna Giorgia Coratti Rachele Rossi Marcella Neri Sonia Messina Adele D’ Amico Claudio Bruno Simona Lucibello Gianluca Vita Angela Berardinelli Francesca Magri Federica Ricci Marina Pedemonte Tiziana Mongini Roberta Battini Luca Bello Elena Pegoraro Giovanni Baranello Eugenio Mercuri 《Neuromuscular disorders : NMD》2021,31(6):479-488
The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also including the adjacent 5′ (upstream) and 3′ (downstream) nucleotides. No significant difference was found between nonsense mutations and other small mutations (p > 0.05) on the 6MWT. Within the nonsense mutations group, there was no difference in 6MWT when the patients were subdivided according to: Type of stop codon, frame status of exons involved, protein domain affected. In contrast, there was a difference when the stop codon together with the 3′ adjacent nucleotide (“stop+4 model”) was considered (p < 0.05) with patients with stop codon TGA and 3′ adjacent nucleotide G (TGAG) having a more rapid decline. Our finding suggest that the stop+4 model may help in predicting functional changes. This data will be useful at the time of interpreting the long term follow up of patients treated with Ataluren that are becoming increasingly available. 相似文献
112.
Toffano Roberta Burgio Francesca Palmer Katie Benavides-Varela Silvia Meneghello Francesca Orrù Graziella Sartori Giuseppe Arcara Giorgio Semenza Carlo 《Neurological sciences》2021,42(10):4183-4191
Neurological Sciences - Financial capacity is the ability to manage money and finances according to a person’s values and self-interests. In Italy, the first instrument specifically designed... 相似文献
113.
Bentes Aline Almeida de Castro Romanelli Roberta Maia Marinho Paula Eillanny Silva Crispim Ana Paula Correa Loutfi Karina Soares Viegas Eisler Cristiane Carvalho Kroon Erna Geessien 《Journal of neurovirology》2021,27(4):609-615
Journal of NeuroVirology - This study aims to characterize the acute neurological manifestations caused by DENV, ZIKV, and YFV during hospitalization; identify the risk factors associated with... 相似文献
114.
115.
Maria R. Galdiero Filomena Maio Francesco Arcoleo Elisa Boni Laura Bonzano Luisa Brussino Mauro Cancian Luigi Cremonte Stefano R. Del Giacco Amato De Paulis Aikaterini Detoraki Davide Firinu Donatella Lamacchia Stefania Loffredo Eustachio Nettis Roberta Parente Paola Parronchi Giovanni Pellacani Angelica Petraroli Giovanni Rolla Riccardo Senter Massimo Triggiani Gianfranco Vitiello Giuseppe Spadaro Maria Bova 《Allergy》2021,76(7):2189-2200
116.
117.
Angele Martins Claudia Koch Mitali Joshi Roberta Pinto Paulo Passos 《Anatomical record (Hoboken, N.J. : 2007)》2021,304(10):2149-2182
118.
Roberta Roncarati Chiara Viviani Anselmi Peter Krawitz Giovanna Lattanzi Yskert von Kodolitsch Andreas Perrot Elisa di Pasquale Laura Papa Paola Portararo Marta Columbaro Alberto Forni Giuseppe Faggian Gianluigi Condorelli Peter N Robinson 《European journal of human genetics : EJHG》2013,21(10):1105-1111
Familial dilated cardiomyopathy (DCM) is a heterogeneous disease; although 30 disease genes have been discovered, they explain only no more than half of all cases; in addition, the causes of intra-familial variability in DCM have remained largely unknown. In this study, we exploited the use of whole-exome sequencing (WES) to investigate the causes of clinical variability in an extended family with 14 affected subjects, four of whom showed particular severe manifestations of cardiomyopathy requiring heart transplantation in early adulthood. This analysis, followed by confirmative conventional sequencing, identified the mutation p.K219T in the lamin A/C gene in all 14 affected patients. An additional variant in the gene for titin, p.L4855F, was identified in the severely affected patients. The age for heart transplantation was substantially less for LMNA:p.K219T/TTN:p.L4855F double heterozygotes than that for LMNA:p.K219T single heterozygotes. Myocardial specimens of doubly heterozygote individuals showed increased nuclear length, sarcomeric disorganization, and myonuclear clustering compared with samples from single heterozygotes. In conclusion, our results show that WES can be used for the identification of causal and modifier variants in families with variable manifestations of DCM. In addition, they not only indicate that LMNA and TTN mutational status may be useful in this family for risk stratification in individuals at risk for DCM but also suggest titin as a modifier for DCM. 相似文献
119.
Roberta Biancheri Camillo Rosano Laura Denegri Eleonora Lamantea Francesca Pinto Federica Lanza Mariasavina Severino Mirella Filocamo 《European journal of human genetics : EJHG》2013,21(1):34-39
Homozygous or compound heterozygous mutations in the GJC2 gene, encoding the gap
junction protein connexin47 (Cx47), cause the autosomal recessive hypomyelinating
Pelizaeus–Merzbacher-like disease (PMLD1, MIM# 608804). Although clinical and
neuroradiological findings resemble those of the classic Pelizaeus–Merzbacher
disease, PMLD patients usually show a greater level of cognitive and motor functions.
Unpredictably a homozygous missense GJC2 mutation (p.Glu260Lys) was found in a
patient presenting with a very severe clinical picture characterised by congenital
nystagmus and severe neurological impairment. Also magnetic resonance imaging was
unusually severe, showing an abnormal supra- and infratentorial white matter involvement
extending to the spinal cord. The novel p.Glu260Lys (c.778G>A) mutation, occurring in a
highly conserved motif (SRPTEK) of the Cx47 extracellular loop-2 domain, was
predicted, by modelling analysis, to break a ‘salt bridge network'', crucial
for a proper connexin–connexin interaction to form a connexon, thus hampering the
correct formation of the connexon pore. The same structural analysis, extended to the
previously reported missense mutations, predicted that most changes were expected to have
less severe impact on protein functions, correlating with the mild PMLD1 form of the
patients. Our study expands the spectrum of PMLD1 and provides evidence that the extremely
severe clinical and neuroradiological PMLD1 form of our patient likely correlates with the
predicted impairment of gap junction channel assembly resulting from the detrimental
effect of the new p.Glu260Lys mutant allele on Cx47 protein. 相似文献
120.
Sara D'Angelo Flavio Mignone Cecilia Deantonio Roberto Di Niro Roberta Bordoni Roberto Marzari Gianluca De Bellis Tarcisio Not Fortunato Ferrara Andrew Bradbury Claudio Santoro Daniele Sblattero 《Clinical immunology (Orlando, Fla.)》2013,148(1):99-109
The aim of this study was to dissect the autoantibody response in celiac disease (CD) that remains largely unknown, with the goal of identifying the disease-specific autoantigenic protein pattern or the so called epitome. Sera from CD patients were used to select immunoreactive antigens from a cDNA phage-display library. Candidate genes were identified, the corresponding proteins produced and their immunoreactivity validated with sera from CD patients and controls. Thirteen CD-specific antigens were identified and further validated by protein microarray. The specificity for 6 of these antigens was confirmed by ELISA. Furthermore we showed that this antibody response was not abolished on a gluten free diet and was not shared with other autoimmune diseases. These antigens appear to be CD specific and independent of gluten induction. The utility of this panel extends beyond its diagnostic value and it may drive the attention to new targets for unbiased screens in autoimmunity research. 相似文献