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941.
S Rowntree T A Platts-Mills J J Cogswell E B Mitchell 《The Journal of allergy and clinical immunology》1987,80(4):622-630
A liquid-phase, antigen-binding radioimmunoassay measuring subclass IgG4 antibody (ab) to allergens has been developed. This assay, which uses monoclonal anti-IgG4 to bind IgG4, allows direct comparison of class (IgG)- and subclass (IgG4)-specific ab levels. These assays used radiolabeled purified allergens, Der p I (Ag P1) from the dust mite Dermatophagoides pteronyssinus, Lol p I (Rye 1), from ryegrass pollen, hen's egg ovalbumin, and beta-lactoglobulin from cow's milk. We have investigated IgG4 abs in several clinical situations. The results confirm that IgG ab responses to both inhalants and food proteins unequivocally include IgG4 ab. On average, the proportion of IgG4 ab to these antigens is far higher than the contribution of IgG4 to total IgG. In patients with adult atopic dermatitis, levels of both class and subclass ab were higher than in control subjects; however, the ratio of IgG4:IgG varied widely in patients and control subjects. During desensitization treatment of patients with perennial rhinitis, levels of IgG4 ab to Der p 1 increased sharply, but there were also increases in the total IgG ab responses so that the percentage contribution of IgG4 was only moderately increased (mean values: before, 29%; after, 36%). In a prospective study of children from atopic families, IgG4 abs to food proteins were detectable as early as 3 months. IgG abs to hen's egg ovalbumin and beta-lactoglobulin from cow's milk increased to a maximum at 3 years and declined by 5 years. However, specific IgG4 as a percentage of specific IgG increased progressively from a mean value of approximately 15% at 6 months to approximately 50% at 5 years of age.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
942.
943.
Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46, XY, -9, + DER(9)T(6:9)(p211:p24) 总被引:1,自引:0,他引:1
Melanie S. Eden James W. Thelin Karen Michalski Joyce A. Mitchell 《Clinical genetics》1985,28(5):375-384
This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes. 相似文献
944.
A mechanism to account for mouse strain variation in resistance to the larval cestode, Taenia taeniaeformis. 总被引:6,自引:0,他引:6 下载免费PDF全文
Mice of various inbred strains differ markedly in resistance to first infection with Taenia taeniaeformis. Hypothymic nude mice of relatively resistant (e.g. BALB/c) and relatively susceptible (e.g. CBA/H) genotypes are highly susceptible but both can be protected against infection by injection of serum from infected mice. Using differential pH elution of "immune serum" from protein A-Sepharose, evidence was obtained that a combination of the pH 6 eluate (enriched for IgG1 molecules) plus the pH 3 or 4 eluate (enriched for IgG2 molecules) was more effective than either eluate alone at transferring protection to nude mice. By using whole serum transfer techniques, the rate of appearance of "host protective serum activity" (presumably antibody) was shown to be increased in genetically resistant versus susceptible mouse strains. It is suggested that, in relatively resistant mouse strains, host protective antibodies prejudice the establishment (or subsequent survival) of larvae prior to the full expression of protective mechanisms in the establishing larvae. In keeping with a host-protective effect of an accelerated immune response early in infection, a high dose challenge with eggs actually resulted in lower infection levels in genetically resistant mouse strains such as BALB/c and C57B1/6. The proposed mechanism of immunologically mediated, genetically based variation in susceptibility to T. taeniaeformis should not influence the effectiveness of a model vaccine against first infection in all strains of mice. 相似文献
945.
Noble M 《Stem cell reviews》2005,1(4):345-376
The increasing understanding of stem cell biology has opened up the possibility of using cell transplantation to treat a large variety of diseases. The medical need to identify optimal therapies is being challenged, however, by some members of society who seek to impose on this scientific quest their views-generally associated with particular religious beliefs-of what constitutes allowable research. This conflict mirrors earlier battles, extending over 150 years, between those implementing inoculation and vaccination to protect against smallpox and those who felt this to be unethical for religious reasons. For the many individuals who might benefit from the potential of stem cell medicine, such prolonged debate is unacceptable. In this review, conflicts in this debate are examined by holding opponents of embryonic stem cell (ESC) research to the standards applied to the science. The challenge of identifying optimal cells for tissue repair is juxtaposed with misrepresentations of stem cell science by those opposed to ESC research. Absolutist views on ethics are juxtaposed with examples of the bad science and unethical acts that occur when dogmatic religious filters and definitions of human-ness are forced upon scientific discussions. Finally, after considering how opponents of ESC research may, ironically, enhance commercial demand for cells derived from fetuses aborted for personal reasons of the mother, 10 proposals are offered that would-if followed by all participants in this debate-produce more ethically balanced discussions and a more comprehensive body of data from which evidence-based conclusions can be drawn. 相似文献
946.
Mitchell LE, Risch N. Correlates of genetic risk for non-syndromic cleft lip with or without cleft palate. Clin Genet 1993: 43: 255–260. © Munksgaard, 1993 Multivariate analysis was used to determine which characteristics: sex of the proband, sibling sex, severity of the proband's defect or family history, are the best predictors of recurrence risk among siblings of individuals with non-syndromic cleft lip with or without cleft palate (CL \pm P). Sibling recurrence risks are not significantly related to the sex of the proband. Severity of the proband's defect, classified by the extent of the lip defect (unilateral versus bilateral), was found to be a significant predictor of sibling recurrence, whereas involvement of the palate in the proband's defect was not. A positive family history of clefting (i.e. at least one affected first-degree relative in addition to the proband) and the sex of the sibling were also found to be significant predictors of sibling recurrence. The associations between sibling risk and family history, and sibling risk and bilaterality of the proband's defect appear to be mildly confounded. After adjusting for the effects of family history, the risk to siblings of probands with bilateral lip defects is twice the risk to siblings of probands with unilateral defects (O.R. = 2.00; 95% C.I. 1.25-3.19). A positive family history of clefting increases the risk to siblings by greater than 4-fold (O.R. =4.49; 95% C.I. 2.74-7.35), after adjusting for the extent of the proband's lip defect. These results provide a rational strategy for identifying subsets of the ‘at risk’ population which have markedly different recurrence risks. This information is important for genetic counseling, since it allows for more precise estimation of sibling recurrence risks in individual cases. Furthermore, our findings indicate that the power to detect linkage between a genetic marker or a candidate gene and CL \pm P will increase if the study population is ascertained through individuals with bilcteral clefts of the lip, rather than through individuals with either unilateral or bilateral CL \pm P. 相似文献
947.
Johanna L. Schmidt MPH MGC CGC Amy Pizzino MS CGC Jessica Nicholl MS CGC Allison Foley MMSc CGC Yue Wang PhD FACMG Jill A. Rosenfeld MS CGC Lindsey Mighion MS CGC Lora Bean PhD Cristina da Silva MS Megan T. Cho MS CGC Rebecca Truty PhD John Garcia PhD Virginia Speare PhD Kirsten Blanco BS Zoe Powis MS CGC Grace M. Hobson PhD Susan Kirwin BS Bryan Krock PhD FACMG Hane Lee PhD Joshua L. Deignan PhD Maggie A. Westemeyer MS CGC Ryan L. Subaran PhD Isabelle Thiffault PhD FABMGG Ellen A. Tsai PhD Terry Fang PhD Guy Helman BS Adeline Vanderver MD 《American journal of medical genetics. Part A》2020,182(8):1906-1912
Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding of the relative frequency of different leukodystrophies. We assessed the relative frequency of all 30 leukodystrophies (associated with 55 genes) in more than 49,000 exomes. We identified a relatively high frequency of disorders previously thought of as very rare, including Aicardi Goutières Syndrome, TUBB4A‐related leukodystrophy, Peroxisomal biogenesis disorders, POLR3‐related Leukodystrophy, Vanishing White Matter, and Pelizaeus‐Merzbacher Disease. Despite the relative frequency of these conditions, carrier‐screening laboratories regularly test only 20 of the 55 leukodystrophy‐related genes, and do not test at all, or test only one or a few, genes for some of the higher frequency disorders. Relative frequency of leukodystrophies previously considered very rare suggests these disorders may benefit from expanded carrier screening. 相似文献
948.
Until recently, the cause of isolated aortic insufficiency (AI) was usually thought to be inflammatory or rheumatic in most cases. However, at our institution we have noted a high prevalence of myxomatous degeneration (MD) in aortic valves removed for AI. In this study we report anatomic observations on valves from 56 consecutive patients with isolated AI undergoing aortic valve replacement surgery. Fifty-six consecutive aortic valves removed at our institution from 1994 to 1996 for isolated AI and/or aortic aneurysm were reviewed. Anatomic features were compared with clinical history and echocardiographic data. The anatomic results were also compared to 22 age-matched control aortic valves obtained at autopsy. In 13/56 cases (23%), a specific valvular cause of AI was determined (infectious endocarditis, seven cases; chronic rheumatic disease, four cases; congenital bicuspid valve, two cases). Of the remaining (idiopathic) 43 cases, 18 (42%) had severe isolated MD defined as >50% expansion of the spongiosa and disruption of the fibrosa by the deposition of acid mucopolysaccharides in the absence of severe calcification, fibrosis, or other pathologic findings. Only 1/22 aortic valves from the autopsy controls had severe MD. Eighteen of the 56 patients also had a clinical history of aortic dilatation/aneurysm of which 12 were confirmed to be dilated by echocardiographic criteria. Of these 12, five (42%) had MD of the aortic valve only, three (25%) had both MD and cystic medial degeneration (CMD) of the aorta, two (17%) had CMD of the aorta only, and two (17%) had no specific diagnosis. Isolated MD of the aortic valve is the most common cause of isolated AI in our patient population. Furthermore, in a subset of non-Marfan’s patients with both AI and dilatation of the aortic root/aortic aneurysm the incidence of MD is even higher (67%). These results suggest that there is overlap between MD and CMD in non-Marfan’s patients and that both entities may be part of a spectrum of a generalized connective tissue disorder. 相似文献
949.
Silviu-Alin Bacanu Cynthia M Bulik Kelly L Klump Manfred M Fichter Katherine A Halmi Pamela Keel Allan S Kaplan James E Mitchell Alessandro Rotondo Michael Strober Janet Treasure D Blake Woodside Vibhor A Sonpar Weiting Xie Andrew W Bergen Wade H Berrettini Walter H Kaye Bernie Devlin 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2005,(1):61-68
To increase the likelihood of finding genetic variation conferring liability to eating disorders, we measured over 100 attributes thought to be related to liability to eating disorders on affected individuals from multiplex families and two cohorts: one recruited through a proband with anorexia nervosa (AN; AN cohort); the other recruited through a proband with bulimia nervosa (BN; BN cohort). By a multilayer decision process based on expert evaluation and statistical analysis, six traits were selected for linkage analysis (1): obsessionality (OBS), age at menarche (MENAR), and anxiety (ANX) for quantitative trait locus (QTL) linkage analysis; and lifetime minimum body mass index (BMI), concern over mistakes (CM), and food-related obsessions (OBF) for covariate-based linkage analysis. The BN cohort produced the largest linkage signals: for QTL linkage analysis, four suggestive signals: (for MENAR, at 10p13; for ANX, at 1q31.1, 4q35.2, and 8q13.1); for covariate-based linkage analyses, both significant and suggestive linkages (for BMI, one significant [4q21.1] and three suggestive [3p23, 10p13, 5p15.3]; for CM, two significant [16p13.3, 14q21.1] and three suggestive [4p15.33, 8q11.23, 10p11.21]; and for OBF, one significant [14q21.1] and five suggestive [4p16.1, 10p13.1, 8q11.23, 16p13.3, 18p11.31]). Results from the AN cohort were far less compelling: for QTL linkage analysis, two suggestive signals (for OBS at 6q21 and for ANX at 9p21.3); for covariate-based linkage analysis, five suggestive signals (for BMI at 4q13.1, for CM at 11p11.2 and 17q25.1, and for OBF at 17q25.1 and 15q26.2). Overlap between the two cohorts was minimal for substantial linkage signals. 相似文献
950.