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排序方式: 共有1636条查询结果,搜索用时 15 毫秒
41.
Raas-Rothschild A Ergaz-Schaltiel Z Bar-Ziv J Rein AJ 《American journal of medical genetics. Part A》2003,(2):156-158
The Stuve-Wiedemann syndrome (SWS) is a congenital bone dysplasia characterized by camptodactyly with ulnar deviation and congenital bowing of the long bones. Affected patients present with respiratory difficulties in the neonatal period or later and recurrent episodes of hyperthermia. The typical radiological findings are bowing of the long bones of the lower limbs, wide metaphyses with decreased density, and abnormal trabecular pattern. Generally, respiratory insufficiency and hyperthermia are reported to be the cause of death. We report on two sibs with SWS, who died from severe pulmonary hypertension with pulmonary artery wall abnormality. We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. We hypothesize that the severe pulmonary hypertension due to the arterial wall abnormality could explain the neonatal death of these two children. 相似文献
42.
Donker SF Ledebt A Roerdink M Savelsbergh GJ Beek PJ 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2008,184(3):363-370
Following recent advances in the analysis of centre-of-pressure (COP) recordings, we examined the structure of COP trajectories
in ten children (nine in the analyses) with cerebral palsy (CP) and nine typically developing (TD) children while standing
quietly with eyes open (EO) and eyes closed (EC) and with concurrent visual COP feedback (FB). In particular, we quantified
COP trajectories in terms of both the amount and regularity of sway. We hypothesised that: (1) compared to TD children, CP
children exhibit a greater amount of sway and more regular sway and (2) concurrent visual feedback (creating an external functional
context for postural control, inducing a more external focus of attention) decreases both the amount of sway and sway regularity
in TD and CP children alike, while closing the eyes has opposite effects. The data were largely in agreement with both hypotheses.
Compared to TD children, the amount of sway tended to be larger in CP children, while sway was more regular. Furthermore,
the presence of concurrent visual feedback resulted in less regular sway compared to the EO and EC conditions. This effect
was less pronounced in the CP group where posturograms were most regular in the EO condition rather than in the EC condition,
as in the control group. Nonetheless, we concluded that CP children might benefit from therapies involving postural tasks
with an external functional context for postural control.
相似文献
Annick Ledebt (Corresponding author)Email: |
43.
Judith Allanson Amanda Smith Francesca Forzano Angela E. Lin Annick Raas-Rothschild Heather E. Howley Kym M. Boycott 《American journal of medical genetics. Part C, Seminars in medical genetics》2018,178(4):447-457
Nablus syndrome was first described by the late Ahmad Teebi in 2000, and 13 individuals have been reported to date. Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. However, the precise genetic etiology for this rare condition remains elusive. Comparative microarray analyses of individuals with Nablus syndrome (including two mother–son pairs) reveal an overlapping 8q22.1 microdeletion, with a minimal critical region of 1.84 Mb (94.43–96.27 Mb). Whereas this deletion is present in all affected individuals, 13 individuals without Nablus syndrome (including two mother–child pairs) also have the 8q22.1 microdeletion that partially or fully overlaps the minimal critical region. Thus, the 8q22.1 microdeletion is necessary but not sufficient to cause the clinical features characteristic of Nablus syndrome. We discuss possible explanations for Nablus syndrome, including one-locus, two-locus, epigenetic, and environmental mechanisms. We performed exome sequencing for five individuals with Nablus syndrome. Although we failed to identify any deleterious rare coding variants in the critical region that were shared between individuals, we did identify one common SNP in an intronic region that was shared. Clearly, unraveling the genetic mechanism(s) of Nablus syndrome will require additional investigation, including genomic and RNA sequencing of a larger cohort of affected individuals. If successful, it will provide important insights into fundamental concepts such as variable expressivity, incomplete penetrance, and complex disease relevant to both Mendelian and non-Mendelian disorders. 相似文献
44.
Blepharophimosis,short humeri,developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations 下载免费PDF全文
Bertrand Isidor Tiphaine Lefebvre Claudine Le Vaillant Gaëlle Caillaud Laurence Faivre Frédéric Jossic Madeleine Joubert Norbert Winer Cédric Le Caignec Guntram Borck Anna Pelet Jeanne Amiel Annick Toutain Nathalie Ronce Martine Raynaud Alain Verloes Albert David 《American journal of medical genetics. Part A》2014,164(7):1821-1825
45.
46.
Mutations in GAS8, a Gene Encoding a Nexin‐Dynein Regulatory Complex Subunit,Cause Primary Ciliary Dyskinesia with Axonemal Disorganization 下载免费PDF全文
Ludovic Jeanson Lucie Thomas Bruno Copin André Coste Isabelle Sermet‐Gaudelus Florence Dastot‐Le Moal Philippe Duquesnoy Guy Montantin Nathalie Collot Sylvie Tissier Jean‐François Papon Annick Clement Bruno Louis Estelle Escudier Serge Amselem Marie Legendre 《Human mutation》2016,37(8):776-785
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic respiratory infections of the upper and lower airways, hypofertility, and, in approximately half of the cases, situs inversus. This complex phenotype results from defects in motile cilia and sperm flagella. Among the numerous genes involved in PCD, very few—including CCDC39 and CCDC40—carry mutations that lead to a disorganization of ciliary axonemes with microtubule misalignment. Focusing on this particular phenotype, we identified bi‐allelic loss‐of‐function mutations in GAS8, a gene that encodes a subunit of the nexin‐dynein regulatory complex (N‐DRC) orthologous to DRC4 of the flagellated alga Chlamydomonas reinhardtii. Unlike the majority of PCD patients, individuals with GAS8 mutations have motile cilia, which, as documented by high‐speed videomicroscopy, display a subtle beating pattern defect characterized by slightly reduced bending amplitude. Immunofluorescence studies performed on patients’ respiratory cilia revealed that GAS8 is not required for the proper expression of CCDC39 and CCDC40. Rather, mutations in GAS8 affect the subcellular localization of another N‐DRC subunit called DRC3. Overall, this study, which identifies GAS8 as a PCD gene, unveils the key importance of the corresponding protein in N‐DRC integrity and in the proper alignment of axonemal microtubules in humans. 相似文献
47.
Dagan O Hochner H Levi H Raas-Rothschild A Sagi M 《American journal of medical genetics》2002,114(2):137-143
Autism is a complex genetic disorder. Chromosome 15 is of particular interest in this disorder, because of previous reports of individuals with autism with chromosomal abnormalities in the 15q11-q13 region. Transmission disequilibrium between polymorphisms in this region and autism has been also been reported in some, but not all studies. Recently, a novel maternally expressed gene, ATP10C, was characterized and mapped to the chromosome 15q11-q13 region, 200 kb distal to UBE3A. It encodes a putative aminophospholipid translocase likely to be involved in the asymmetric distribution of proteins in the cell membrane. Preferential maternal expression has been demonstrated in fibroblasts and brain. Because of its physical location and imprinting pattern, ATP10C was considered to be a candidate gene for chromosome 15-associated autism. In an effort to find the genes responsible for autism in this chromosomal region, 1.5 kb of the 5' flanking region, as well as the coding and splicing regions of ATP10C, were screened for sequence variants. Several polymorphic markers including five nonsynonymous SNPs were identified. To investigate transmission disequilibrium between ATP10C and autism, a family-based association study was conducted for 14 markers in 115 autism trios. No significant transmission disequilibrium was found, suggesting ATP10C is unlikely to contribute strongly to susceptibility to autism in these families. However, due to limited power to detect genes of modest effect, the possible functional role of the nonsynonymous SNPs and the functional implications of the SNPs identified from 5' flanking region and intron 2 splicing region may be evaluated in further studies. 相似文献
48.
Nociceptive and sympathetic innervations in the abaxial part of the cranial horn of the equine medial meniscus: an immunohistochemical approach 下载免费PDF全文
In athletic horses, diseases leading to lameness are of great importance due to the loss of performance and the resultant economic concerns. Although stifle lesions are frequent in the hindlimb, due to the large size and complexity of the joint, and although meniscal tears have been identified as the most common soft tissue injuries in this joint, little is known about the mechanism that causes the painful sensation and thus the lameness. The aim of our study was to highlight any peripheral fibres involved in meniscal nociception in five macroscopically sound cranial horns of the equine medial meniscus, which has been one of the most common sites reported for equine meniscal injuries. Immunohistochemical stainings were performed using antibodies against Substance P in order to identify nociceptive fibres; against tyrosine hydroxylase for detecting postganglionic sympathetic fibres; and against glial fibrillary acidic proteins in order to identify Schwann cells. Our work highlights for the first time the presence of nociceptive and sympathetic fibres in equine menisci. They were found in the abaxial part of the cranial horn of the equine medial meniscus. This study suggests that when the abaxial part is injured, the meniscus itself could be the source of pain. These findings could provide a better understanding of the clinical presentation of horses with meniscal injury and contribute towards improving therapeutic strategies to alleviate pain in cases of equine meniscal injury. 相似文献
49.
ATP release from human airway epithelial cells studied using a capillary cell culture system 总被引:5,自引:1,他引:5
Epithelial release of adenosine triphosphate (ATP), an important autocrine and paracrine signalling molecule, is acutely mechanosensitive and therefore difficult to study. We describe here a novel preparation that minimizes mechanical and metabolic perturbations, and use it to examine ATP secretion by epithelial cells. The Calu-3 cell line derived from human airway sub-mucosal glands was cultured in a hollow fibre bioreactor on porous capillaries that were perfused by a re-circulating medium pump. Cells became polarized and cultures were stable for > 5 months, as evidenced by microscopy and lactate production (≈250 μg (108 cells)−1 day−1 ). Elevating apical flow rate 5-fold increased ATP secretion from ≈200 to 6618 fmol min−1 . Reducing apical osmolarity by 25–43 % also increased ATP secretion, which then declined spontaneously to a plateau rate that persisted as long as hypotonic perfusion was maintained. Release deactivated rapidly after shear and osmotic stresses were terminated, and was not associated with detectable cell lysis. Lowering apical [Ca2+ ] to increase connexin hemichannel permeability also stimulated ATP release and increased secretion during both hyposmotic and shear stress; however, the connexin 43 blocker flufenamic acid inhibited shear-induced ATP release only in low-Ca2+ solution, and therefore another secretory pathway may operate with physiological (i.e. m m ) calcium. Regardless of the mechanism, the present results quantify ATP responses to mechanical and osmotic stimuli and demonstrate the usefulness of capillary cultures for studying epithelial secretion. 相似文献