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1.
《Journal of pediatric and adolescent gynecology》2020,33(6):733-734
BackgroundMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as incomplete development of Müllerian structures (uterus, fallopian tubes, proximal vagina) in an otherwise phenotypic female individual. MRKH syndrome typically presents in adolescence with primary amenorrhea, but has been diagnosed in younger patients who present with other associated abnormalities, most commonly renal and skeletal.CaseHere we describe a 46,XX female infant with prenatally diagnosed renal anomalies who was found to have bilateral inguinal ovarian hernias at 1 month of age. Imaging of the genitourinary system revealed absence of the uterus and proximal vagina, consistent with MRKH syndrome.Summary and ConclusionsThis case highlights the importance of a thorough physical examination and an interdisciplinary team evaluation of infants with genitourinary anomalies, particularly when there is concern for differences in sexual development. 相似文献
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迟发性睾丸功能减退(late onset hypogonadism in males,LOH)是一组临床症候群,随着科技和医学的不断进步和人们生活水平的逐步提高,它的发病率呈逐年上升的趋势,而男性的健康也受到大家越来越多的关注。在老龄化越来越明显的21世纪,防治本病也就显得格外的重要,现就其病因研究作一综述。 相似文献
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Three different light sources were used to determine the effects of spectral power distribution (SPD) and illuminance levels on growth and organ weights of male golden hamsters and rats. SPD had little effect on organ weights or measurements of either rats or hamsters. However, responses to illuminance levels were quite apparent, provided they were equalized for the scotopic eye sensitivity curve characteristic of nocturnal animals. Under seven illuminance levels from 0 to 3.9 scotopic fc, hamsters demonstrated graded responses in gonadal weights and presumed function from 0 to 0.02 scotopic fc. Above this level, photopic saturation was apparent. The neuroendocrine system of pinealectomized animals failed to show sensitivity to illuminance levels. The suggestion is made that the pineal gland acts to monitor illuminance levels (below about 0.02 scotopic fc) as well as photic duration. While the latter appears to be an "all or none" effect, the former appears to be graded. 相似文献
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Day length affects somatic and reproductive physiology of Siberian hamsters via regulation of the duration of nocturnal pineal melatonin secretion. Nightly 'long' (e.g. 12 hr) or 'short' (e.g. 6 hr) melatonin signals inhibit or stimulate gonadal growth, respectively. When long and short signals are presented in combination, however, neuroendocrine mechanisms exhibit a frequency-dependent response, stimulating gonadal growth only if short signals are presented every second night or more frequently. The present experiments further assessed formal models for the temporal integration of melatonin signals changing abruptly in duration from night to night. Photo-inhibited Siberian hamsters were housed in constant light and infused subcutaneously with various combinations of nightly short or long melatonin signals according to one of the several regimes that varied the frequency of short melatonin signal occurrence, average duration of the nightly melatonin signal, or both. Six weeks of nightly alternating short and long signals yielded different gonadal responses depending on the average melatonin signal duration. Moreover, when average melatonin signal duration was held constant between groups, gonadal stimulation was independent of the frequency of the constituent melatonin signals except when the duration of the short signal was reduced to 3 hr. Thus, neuroendocrine mechanisms do not solely categorize melatonin signals as either long or short but attend also to the duration of each component signal. In the majority (six of seven) of infusion regimes, reproductive responses to chimeric patterns of long and short melatonin signals were compatible with a simple signal-averaging mechanism. 相似文献
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Honecker F Kersemaekers AM Molier M Van Weeren PC Stoop H De Krijger RR Wolffenbuttel KP Oosterhuis W Bokemeyer C Looijenga LH 《The Journal of pathology》2004,204(2):167-174
Intercellular contacts, mediated by E-cadherin, are essential for germ cell migration and maturation. Furthermore, it has been suggested that decrease or loss of E-cadherin correlates with tumour progression and invasive behaviour. beta-catenin is involved in a number of different processes, including cell--cell interaction when bound to cadherins, and determination of cell fate in pluripotent cells when activated via the Wnt signal-transduction pathway. To shed more light on the role of these factors in normal fetal germ cell development and the pathogenesis of germ cell tumours (GCTs), the present study investigated the presence and localization of E-cadherin and beta-catenin by immunohistochemistry. E-cadherin was only weakly expressed in or absent from fetal germ cells of the second and third trimesters, and was not expressed in carcinoma in situ/intratubular germ cell neoplasia unclassified (CIS/ITGCNU) and gonadoblastoma, the precursor of an invasive GCT in dysgenetic gonads. In GCTs, it was generally not expressed in seminoma and dysgerminoma, but was found in the vast majority of non-seminoma cells. beta-catenin was found in the cytoplasm of fetal germ cells at all gestational ages and in spermatogenesis in post-pubertal testes. It was also present in CIS/ITGCNU and gonadoblastoma. Whereas seminomas and dysgerminoma were negative, non-seminoma cells were frequently found to express beta-catenin. Expression of both factors therefore reflects the degree of differentiation of these tumours. No differences for either E-cadherin or beta-catenin were observed between samples of tumours resistant or sensitive to chemotherapy, and E-cadherin expression did not correlate with vascular invasion. E-cadherin and beta-catenin therefore play a role in both normal and malignant germ cell development and differentiation that warrants further investigation, but they seem to be of limited value as predictive or prognostic factors in GCTs. 相似文献
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Eberhard Passarge Ulrich Wolf John M. Opitz 《American journal of medical genetics. Part A》1981,8(4):437-441
A 16 1/2-year-old girl was studied because of ileitis, lack of pubertal development, and primary amenorrhea. She had a 46,XY chromosome constitution in lymphocytes in fibroblasts without structural defects of X or Y. She was H-Y antigen negative. This observation supports the concept of causal heterogeneity of XY gonadal dysgenesis (Swyer syndrome). Two groups have been established: (1) H-Y antigen-positive forms, which are more common, possibly due to gonad-specific receptor defects (total failure or reduced receptor affinity), (2) H-Y antigen-negative forms possibly due to mutation in the H-Y generating system, either of the structural gene (presumably autosomal) or of a controlling gene (on the sex chromosomes). The H-Y antigen status may be of value in determining which patients are at risk for gonadoblastoma or dysgerminoma. 相似文献
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B. I. Lyubimov N. M. Smol'nikova S. N. Strekalova A. N. Yavorskii 《Bulletin of experimental biology and medicine》1979,87(2):136-138
Experiments on rats showed that carbidine, when injected intramuscularly for 2 weeks in a dose effective for the experimental treatment of alcohol dependence (4 mg/kg), has no gonadotropic action. The drug does not potentiate the adverse after-effects of chronic ethanol poisoning on ovogenesis or spermatogenesis and does not delay the course of repair processes in the gonads after cessation of the ethanol intake. However, carbidine is given during continued consumption of ethanol, further development of the regressive changes in the generative cells of the gonads is observed.Laboratory of Drug Toxicology, Institute of Pharmacology, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR V. V. Zakusov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 87, No. 2, pp. 155–158, February, 1979. 相似文献
10.
A review of the reproductive performance of 47,XXX individuals showed that the incidence of gonosomal aneuploidy among the offspring is low. To explain this unexpected phenomenon it is hypothesized that fertile triplo-X individuals have chromosomally normal oogonia due to mitotic nondisjunction in a cell from which the primordial germ line took origin. Mosaic 46,XX/47,XXX individuals have a somewhat higher risk of bearing aneuploid offspring, possibly due to a constitutional tendency toward gonosomal nondisjunction. 相似文献