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1.
Ravi Parasuraman Nizar Attallah K.K. Venkat Atsushi Yoshida Marwan Abouljoud Sanjaya Khanal Adam Greenbaum 《American journal of transplantation》2004,4(11):1910-1914
Fibromuscular dysplasia is the second commonest anatomical abnormality apart from multiple renal arteries in the potential live donors. Pretransplant evaluation of the donors may include an angiography to evaluate the renal arteries, and failure to recognize renal arterial stenosis, particularly fibromuscular dysplasia, by noninvasive methods may eventually lead to hypertension and ischemic renal failure. We report a case of fibromuscular dysplasia that was undetected by computed tomographic angiography prior to donation. One year after kidney donation, it rapidly progressed to severe symptomatic stenosis with hypertension and acute renal failure. Following renal artery angioplasty, her blood pressure normalized over a period of 2 weeks without any need for antihypertensive medications and the serum creatinine returned to her baseline. The acceptability of renal donors with fibromuscular dysplasia depends on the age, race and the availability of the other suitable donors. Mild fibromuscular dysplasia in a normotensive potential renal donor cannot be considered a benign condition. Such donors need regular follow-up postdonation for timely detection and treatment. 相似文献
2.
We investigate the role that the superior colliculus (SC) and the cerebellum might play in generating gaze shifts. The discharge of cells in the intermediate layers of the SC is tightly linked to the occurrence of saccades. Many studies have demonstrated that the cerebellum is involved in both eye and head movements. When the head is unrestrained, large amplitude gaze shifts are composed of coordinated eye and head movements. In this study, we propose that the gaze saccades system is controlled by a feedback loop between the SC and the cerebellum. The SC only encodes retinal coordinates and controls the eye displacement (to move the fovea to the target), while the cerebellum deals with the gaze programming and controls the head displacement. When a target appears in space, the buildup cells within the SC decode the target signal in the retina before the saccade onset, and input the signal of the gaze displacement to the cerebellum. The cells in the cerebellum vermis encode the initial position of the eye in the orbit. The gaze displacement is decomposed into the head amplitude and the eye amplitude within the cerebellum. There are two output signals from the cerebellum. One signal controls the head movement. The other is projected back to the SC, and forms a component of the saccade vector to control the eye movement. The sum of the vectors provided by the cerebellum and the vector provided by the burst cells in the SC indicates the direction and the amplitude of the desired movement of the eye during the saccade. We propose a cerebellum model to predict the displacements of the eye and head under the condition that the position of the target signal in the retina and the initial position of the eye in the orbit are known. The results from the model are close to that observed physiologically. We conclude that before gaze shift onset, the cerebellum may play an important role in decomposing the gaze displacement into an eye amplitude and head amplitude signal. 相似文献
3.
Marwan H. Saab Douglas C. Smith Paul K. Aka Robert W. Brownlee J. David Killeen 《Cardiovascular and interventional radiology》1992,15(4):211-216
Percutaneous transluminal balloon angioplasty (PTA) was performed in 17 tibial arteries with an average cross-sectional area
stenosis of 92% (range 75–99%) in 13 patients (14 limbs) for limb salvage. In 4 of 14 lower extremities, PTA of femoropopliteal
arteries was also performed. Technical success with 50% or less residual stenosis was achieved in all 17 tibial vessels. At
approximately 2 months after PTA, clinical improvement had occurred in 10 of 14 limbs; no patient was made worse. Most recent
follow-up (mean 19 months, range 8–34 months) revealed continued satisfactory clinical success with no further vascular intervention
in 9 of these 10 limbs (one patient died). Short segmental stenoses, residual stenoses less than 40% following PTA, and absence
of diabetes or gangrene appear to be predictors of favorable clinical outcomes. Our results suggest that PTA of focal tibial
stenosis is an effective and safe treatment modality in properly selected patients and that wider use of PTA may be justified. 相似文献
4.
5.
Alicia Bach Jingyi Mi Matthew Hunter Benjamin J. Halliday Sixto García-Miaúr Francesca Sperotto Eva Trevisson David Markie Ian M. Morison Marwan Shinawi Daniel N. Willis Stephen P. Robertson 《European journal of human genetics : EJHG》2021,29(3):396
Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15–30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith–Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.Subject terms: Genetics, Clinical genetics, Disease genetics 相似文献
6.
Bendicht U. Pauli Hellmut G. Augustin-Voss Marwan E. El-Sabban Robert C. Johnson Daniel A. Hammer 《Cancer metastasis reviews》1990,9(3):175-189
Summary The initial, site-specific colonization of secondary organs by blood-borne cancer cells appears to be mediated by endothelial cell adhesion molecules. These molecules are part of the organ-specific microvascular phenotype and are regulated through complex interactions of the endothelium with the extracellular matrix (e.g., distinct matrix macromolecules and growth factors). They are inducedin vitro by growing unspecific (large vessel) endothelial cells on extracts of organ-specific biomatrices. In many respects, these molecules are similar to the various classes of chemically different adhesion molecules that regulate lymphocyte traffic, but are believed to be distinct from the inducible adhesion molecules that govern leukocyte adhesion during acute episodes of inflammation. Biochemical and biophysical data indicate that preference of tumor cell adhesion to organ-specific microvascular endothelium may not require qualitative differences of such homing receptors between endothelia, but may be explained on the basis of quantitative receptor differences as well as differences of receptor avidity. Following adhesion, the metastatic cascade proceeds by the establishment of metabolic conduits between the endothelium and adherent tumor cells. This heterotypic coupling represents an early step in the extravasation of cancer cells from the microvasculature, initiating endothelial cell retraction from its basement membrane and recanalization around the arrested tumor cell. These events, together with local growth promoting effects exerted by the metastasized organ, are believed to provide the basis for Paget's seed and soil hypothesis of metastasis. 相似文献
7.
Parith Wongkittichote Tae-Ik Choi Oc-Hee Kim Kacie Riley Dwight Koeberl Vinodh Narayanan Keri Ramsey Chris Balak Charles E. Schwartz Anna Maria Cueto-Gonzalez Francina Munell Casadesus Cheol-Hee Kim Marwan S. Shinawi 《Clinical genetics》2023,103(2):167-178
ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated with Wieacker-Wolff syndrome (MIM# 314580), an X-linked neurodevelopmental disorder characterized by arthrogryposis, development delay, hypotonia, feeding difficulties, poor growth, skeletal abnormalities, and dysmorphic features. Zebrafish zc4h2 null mutants recapitulated the human phenotype, showed complete loss of vsx2 expression in brain, and exhibited abnormal swimming and balance problems. Here we report 7 new patients (four males and three females) with ZC4H2-related disorder from six unrelated families. Four of the 6 ZC4H2 variants are novel: three missense variants, designated as c.142T>A (p.Tyr48Asn), c.558G>A (p.Met186Ile) and c.602C>T (p.Pro201Leu), and a nonsense variant, c.618C>A (p.Cys206*). Two variants were previously reported : a nonsense variant c.199C>T (p.Arg67*) and a splice site variant (c.225+5G>A). Five patients were on the severe spectrum of clinical findings, two of whom had early death. The male patient harboring the p.Met186Ile variant and the female patient that carries the p.Pro201Leu variant have a relatively mild phenotype. Of note, 4/7 patients had a tethered cord that required a surgical repair. We also demonstrate and discuss previously under-recognized phenotypic features including sleep apnea, arrhythmia, hypoglycemia, and unexpected early death. To study the effect of the missense variants, we performed microinjection of human ZC4H2 wild-type or variant mRNAs into zc4h2 null mutant zebrafish embryos. The p.Met186Ile mRNA variant was able to partially rescue vsx2 expression while p.Tyr48Asn and p.Pro201Leu mRNA variants were not. However, swimming and balance problems could not be rescued by any of these variants. These results suggest that the p.Met186Ile is a hypomorphic allele. Our work expands the genotypes and phenotypes associated with ZC4H2-related disorder and demonstrates that the zebrafish system is a reliable method to determine the pathogenicity of ZC4H2 variants. 相似文献
8.
Marwan Ali Dylan D. Hutchison Nicolas M. Ortiz Ryan P. Smith David E. Rapp 《Translational andrology and urology》2022,11(8):1200
Background and ObjectiveUrinary incontinence following prostate treatment (IPT) is a common complication with corresponding negative impacts on quality of life. Pelvic floor muscle training (PFMT) is a non-invasive treatment strategy to treat combat this clinical issue, and has been recognized by medical associations globally and increasingly supported by large bodies of literature. Accordingly, many studies demonstrate a significant benefit of pelvic floor muscle training to continence status and quality of life in men with incontinence following prostate treatment. However, related research is limited by variety in treatment regimens, outcome measures, and study designs, with unclear impact on treatment success. We aim to provide a brief overview of pathology and incidence of incontinence following prostate surgery and an understanding how PFMT is currently used to treat and prevent this clinical consequence.MethodsA comprehensive literature search was conducted utilizing PubMed, Medline, and Google Scholar. Search criteria included systematic reviews and randomized control trials published in the year 2000 to present. References of resulting studies were further analyzed to identify further articles of relevance. Keywords searched included: “post-prostatectomy incontinence”, “pelvic muscle strengthening”, “Benign Prostatic Hyperplasia”, and “pelvic floor muscle training”. Peer-reviewed publications that demonstrated a novel addition to the existing body of literature on this subject were included.Key Content and FindingsUpon review of the current research landscape, PFMT is largely supported in treatment of IPT. Analysis of current literature on this subject demonstrates heterogeneity in protocols, measures of treatment success, and patient numbers. Nevertheless, benefits to continence and quality of life are noted across an expansive body of literature and as such, PFMT is therefore recommended as an important part of the treatment algorithm following radical prostatectomy.ConclusionsPFMT is an important and effective part of the treatment algorithm in the prevention and treatment of IPT. Additional research is needed to more extensively assess PFMT’s role in treating this clinical consequence, especially following other prostate surgeries. 相似文献
9.
Dinesh Kaphle Katrina L. Schmid Leon N. Davies Marwan Suheimat David A. Atchison 《Investigative ophthalmology & visual science》2022,63(6)
PurposeThe purpose of this study was to determine whether accommodation-induced changes in ciliary muscle dimensions vary between emmetropes and myopes, and the effect of the image analysis method.MethodsSeventy adults aged 18 to 27 years consisted of 25 people with emmetropia (spherical equivalent refraction [SER] +0.21 ± 0.36 diopters [D]) and 45 people with myopia (−2.84 ± 1.72 D). There were 23 people with low myopia (>−3 D) and 22 people with moderate myopia (−3 to −6 D). Right eye ciliary muscles were imaged (Visante OCT; Carl Zeiss Meditec) at 0 D and 6 D demands. Measures included ciliary muscle length (CML), ciliary muscle curved length (CMLarc), maximum ciliary muscle thickness (CMTmax), CMT1, CMT2, and CMT3 (fixed distances 1–3 mm from the scleral spur), CM25, CM50, and CM75 (proportional distances 25%–75%). Linear mixed model analysis determined effects of refractive groups, race, and demand on dimensions. Significance was set at P < 0.05.ResultsMyopic eyes had greater CML and CMLarc nasally than emmetropic eyes. Myopic eyes had thicker muscles than emmetropic eyes at nasal positions, except CM25 and CMT3, and at CM75 temporally. During accommodation and only nasally, CML reduced in emmetropic and myopic eyes, and CMLarc reduced in myopic eyes only. During accommodation, both nasally and temporally, muscles thickened anteriorly (CMT1 and CM25) and thinned posteriorly (CMT3 and CM75) except for temporal CM75. Moderate myopic eyes had greater temporal CMLarc than low myopic eyes, and the moderate myopes had thicker muscles both nasally and temporally using fixed and proportional distances.ConclusionsPeople with myopia had longer and thicker ciliary muscles than people with emmetropia. During accommodation, the anterior muscle thickened and the curved nasal muscle length shortened, more in myopic than in emmetropic eyes. The fixed distance method is recommended for repeat measures in the same individual. The proportional distance method is recommended for comparisons between refractive groups. 相似文献
10.
Marwan Bahu Bradley P. Knight Raul Weiss Stephen J. Hahn Rajiva Goyal Emile G. Daoud K. Ching Man Fred Morady S. Adam Strickberger 《Journal of interventional cardiac electrophysiology》1997,2(1):41-45
Introduction: A variety of factors, including the number of defibrillation electrodes and shocking capacitance, may influence the defibrillation efficacy of an implantable defibrillator system. Therefore, the purpose of this study was to compare the defibrillation energy requirement using a 125 uF two-electrode defibrillation system and a 90 uF three-electrode defibrillation system.Methods and Results: The defibrillation energy requirements measured with both systems were compared in 26 consecutive patients. The two-electrode system used a single transvenous lead with two defibrillation coils in conjunction with a biphasic waveform from a 125 uF capacitor. The three-electrode system used the same transvenous lead, utilized a pectoral implantable defibrillator generator shell as a third electrode, and delivered the identical biphasic waveform from a 90 uF capacitor. The two-electrode system was associated with a higher defibrillation energy requirement (10.8±5.5 J) than was the three-electrode system (8.9±6.7 J, p < 0.05), however, the leading edge voltage was not significantly different between systems (361±103 V vs. 397±123 V, P = 0.07). The two-electrode system also had a higher shocking resistance (49.0±9.0 ohms vs. 41.4±7.3 ohms, p < 0.001) and a lower peak current (7.7±2.6 A vs. 10.1±3.7 A, p < 0.001) than the three-electrode system.Conclusions: A three-electrode defibrillation system that utilizes a dual coil transvenous lead and a subcutaneous pectoral electrode with lower capacitance is associated with a lower defibrillation energy requirement than is a dual coil defibrillation system with higher capacitance. This finding suggests that the utilization of a pectoral generator as a defibrillation electrode in conjunction with smaller capacitors is a more effective defibrillation system and may allow for additional miniaturization of implantable defibrillators. 相似文献