全文获取类型
收费全文 | 7810篇 |
免费 | 429篇 |
国内免费 | 265篇 |
专业分类
耳鼻咽喉 | 22篇 |
儿科学 | 267篇 |
妇产科学 | 329篇 |
基础医学 | 3634篇 |
口腔科学 | 64篇 |
临床医学 | 335篇 |
内科学 | 757篇 |
皮肤病学 | 75篇 |
神经病学 | 311篇 |
特种医学 | 190篇 |
外科学 | 322篇 |
综合类 | 868篇 |
现状与发展 | 1篇 |
预防医学 | 248篇 |
眼科学 | 41篇 |
药学 | 242篇 |
中国医学 | 51篇 |
肿瘤学 | 747篇 |
出版年
2024年 | 5篇 |
2023年 | 34篇 |
2022年 | 70篇 |
2021年 | 113篇 |
2020年 | 140篇 |
2019年 | 129篇 |
2018年 | 110篇 |
2017年 | 120篇 |
2016年 | 165篇 |
2015年 | 202篇 |
2014年 | 261篇 |
2013年 | 368篇 |
2012年 | 252篇 |
2011年 | 319篇 |
2010年 | 290篇 |
2009年 | 313篇 |
2008年 | 330篇 |
2007年 | 342篇 |
2006年 | 350篇 |
2005年 | 320篇 |
2004年 | 345篇 |
2003年 | 272篇 |
2002年 | 293篇 |
2001年 | 285篇 |
2000年 | 244篇 |
1999年 | 264篇 |
1998年 | 227篇 |
1997年 | 265篇 |
1996年 | 262篇 |
1995年 | 271篇 |
1994年 | 178篇 |
1993年 | 195篇 |
1992年 | 162篇 |
1991年 | 122篇 |
1990年 | 113篇 |
1989年 | 76篇 |
1988年 | 86篇 |
1987年 | 75篇 |
1986年 | 88篇 |
1985年 | 57篇 |
1984年 | 56篇 |
1983年 | 59篇 |
1982年 | 50篇 |
1981年 | 52篇 |
1980年 | 60篇 |
1979年 | 48篇 |
1978年 | 26篇 |
1977年 | 16篇 |
1976年 | 7篇 |
1974年 | 4篇 |
排序方式: 共有8504条查询结果,搜索用时 0 毫秒
41.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. 相似文献
42.
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome 总被引:2,自引:0,他引:2
Philippos C. Patsalis Michael I. Hadjimarcou Voula Velissariou Sophia Kitsiou-Tzeli Christina Zera Maria Syrrou Evangelia Lyberatou Aspasia Tsezou Angeliki Galla Nicos Skordis 《Clinical genetics》1997,51(3):184-190
DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 patients with stigmata of Turner syndrome to determine whether the Supernumerary M arker C hromosome (SMC) found cytogenetically in each of these patients was derived from the Y chromosome. The presence of a Y chromosome in these patients may predispose them to develop gonadoblastoma. PCR-Southern blot analysis, followed by FISH, was used to detect the presence of Y chromosome material. The S ex determining R egion Y (SRY), T estis S pecific P rotein Y -encoded (TSPY) and Y -chromosome R NA R ecognition M otif (YRRM) genes, which map at Yp11.31, Yp11.1–11.2 and Yp11.2/Yq11.21–11.23, respectively, were selected as markers, because they span the whole Y chromosome, and more importantly, they are considered to be involved in the development of gonadoblastoma. It was shown that in 12 patients, all of whom had an SMC, the SMC of 11 was derived from the Y chromosome. Furthermore, the presence of the SRY, TSPY and YRRM gene sequences was determined and FISH analysis confirmed the Y origin of the SMCs. The methodology described in this report is a rapid, reliable and sensitive approach which may be easily applied to determine the Y origin of an SMC carried in Turner syndrome. The identification of an SMC is important for the clinical management and prognostic counseling of these patients with Turner syndrome. 相似文献
43.
Lura Brianna Caddle Jeremy L. Grant Jin Szatkiewicz Johann van Hase Bobbi-Jo Shirley Joerg Bewersdorf Christoph Cremer Alain Arneodo Andre Khalil Kevin D. Mills 《Chromosome research》2007,15(8):1061-1073
Radiation exposure is an occupational hazard for military personnel, some health care professionals, airport security screeners,
and medical patients, with some individuals at risk for acute, high-dose exposures. Therefore, the biological effects of radiation,
especially the potential for chromosome damage, are major occupational and health concerns. However, the biophysical mechanisms
of chromosome instability subsequent to radiation-induced DNA damage are poorly understood. It is clear that interphase chromosomes
occupy discrete structural and functional subnuclear domains, termed chromosome territories (CT), which may be organized into
‘neighborhoods’ comprising groups of specific CTs. We directly evaluated the relationship between chromosome positioning,
neighborhood composition, and translocation partner choice in primary lymphocytes, using a cell-based system in which we could
induce multiple, concentrated DNA breaks via high-dose irradiation. We critically evaluated mis-rejoining profiles and tested
whether breaks occurring nearby were more likely to fuse than breaks occurring at a distance. We show that CT neighborhoods
comprise heterologous chromosomes, within which inter-CT distances directly relate to translocation partner choice. These
findings demonstrate that interphase chromosome arrangement is a principal factor in genomic instability outcomes in primary
lymphocytes, providing a structural context for understanding the biological effects of radiation exposure, and the molecular
etiology of tumor-specific translocation patterns. 相似文献
44.
Shanlee M. Davis Mitchell E. Geffner 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(1):60-66
Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life. The etiology of the increased risk of cardiometabolic conditions in TS is likely multifactorial, involving genetics, epigenetics, hypogonadism, medical comorbidities, medications, and lifestyle. Counseling for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS. Clinical practice guidelines are now available to guide screening and treatment of cardiometabolic conditions in girls and women with TS. 相似文献
45.
Jun Nakura Lin Ye Koichi Kihara Hidehisa Yamagata Kouzin Kamino Yusuke Nakamura Tetsuro Miki Toshio Ogihara 《Journal of human genetics》1995,40(3):281-282
Two polymorphic dinucleotide (CA) repeat clones were isolated from cosmids, cCI8-1121 and cCI8-1199, mapped to chromosome 8p11.2-p12. 相似文献
46.
Gunilla Caisander Hannah Park Katarina Frej Jenny Lindqvist Christina Bergh Kersti Lundin Charles Hanson 《Chromosome research》2006,14(2):131-137
There have been recent reports of human embryonic stem cell (hESC) lines developing chromosomal aberrations after long-term
culture, indicating an unstable genomic status due to the in vitro milieu. This raises concern, since it would limit their use in therapeutics. In this study the chromosomal status of five
well-characterized hESC lines, SA002, SA002.5, AS034.1.1, SA121 and SA461, was monitored during long-term in vitro culture. The criteria of defined hESCs were met by all of the five hESC lines (four diploid and one trisomic for chromosome
13). The genomes were screened for chromosomal aberrations and rearrangements using comparative genomic hybridization (CGH),
interphase fluorescence in situ hybridization (FISH) and traditional karyotyping on several occasions while in culture. The genomic integrity was shown to
be maintained after repeated freeze-thaw procedures and continuous culture in vitro for up to 22 months (148 passages). We discuss the most common de novo chromosomal aberrations reported in hESCs, as well as their possible origin. 相似文献
47.
A brief introduction to the Danish Cytogenetic Central Register (DCCR) is given, and possibilities, principles and problems concerning the establishment and maintenance of a national cytogenetic register are presented.
Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR.
The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing.
Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented. 相似文献
Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR.
The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing.
Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented. 相似文献
48.
José M. González-García Carmen Antonio José A. Suja Julio S. Rufas 《Chromosome research》1996,4(2):124-132
We have determined the number and location of the nucleolar organizing regions in spermatocytes ofGraphosoma italicum (2n=12A+ XY/XX) by means of silver impregnation, chromomycin A3/distamycin A staining and fluorescencein situ hybridization. The identification of only one nucleolar organizing region located at one of the X chromosome ends has provided a suitable cytological marker to analyse the segregation of this univalent and that of the XY pseudobivalent during the first and second meiotic divisions respectively. Our results clearly show that at first meiotic metaphase the chromatids of the X chromosome are orientated with their long axes perpendicular to the polar axis. Although the kinetic activity is restricted to only one end in both X chromatids during the first meiotic division, both ends of the same chromatid have the same probability of showing such kinetic activity. In this sense, we also report that the chromatid segregation maybe initiated either at the same sister chromatid ends or at opposite ends in each chromatid. Thus, this indicates a sex chromatid independence as regards to the chromatid segregation during the first meiotic division. Throughout the second meiotic division both ends of the X chromatid are involved with the same probability in the end-to-end association to conform the XY pseudobivalent. This also implies a random localization of the kinetic activity at the ends opposite to those involved in the end-to-end association.accepted for publication by J. S. (Pat) Heslop-Harrison 相似文献
49.
Morel F Gallon F Amice V Le Bris MJ Le Martelot MT Roche S Valéri A Derrien V Herry A Amice J De Braekeleer M 《Human reproduction (Oxford, England)》2002,17(10):2552-2555
BACKGROUND: Several studies have shown an increased frequency of constitutional chromosome aberrations in male and female partners of couples examined prior to ICSI. We conducted a cohort study to determine whether there was an increase in numerical sex chromosome mosaicism among couples undergoing ICSI compared with fertile couples. METHODS: Cytogenetic investigations were performed in 228 females and 208 males seen for ICSI between January 1997 and March 2001. They were matched to control females and males. RESULTS: Sex chromosome loss or gain was observed in at least one cell from 24.1% of ICSI women in comparison with 22% of controls (not significant). A significant difference between these two groups was found when X chromosome loss in at least two cells was considered, 9.6% for ICSI females versus 4.8% for controls (P = 0.01). No significant difference was observed between male groups concerning loss or gain of the X or Y chromosome. CONCLUSION: Our results support previously published studies indicating that the loss of an X chromosome in a single cell in females undergoing ICSI is probably an artefact. However, they suggest that a woman could have true sex chromosome mosaicism when two 45,X0 cells are found. 相似文献
50.
Ignacio Prieto Charles Tease Nieves Pezzi José M. Buesa Sagrario Ortega Leonor Kremer Alicia Martínez Carlos Martínez-A Maj A. Hultén José L. Barbero 《Chromosome research》2004,12(3):197-213
Cohesins are chromosomal proteins that form complexes involved in the maintenance of sister chromatid cohesion during division of somatic and germ cells. Three meiosis-specific cohesin subunits have been reported in mammals, REC8, STAG3 and SMC1 beta; their expression in mouse spermatocytes has also been described. Here we studied the localization of different meiotic and mitotic cohesin components during prophase I in human and murine female germ cells. In normal and atretic human fetal oocytes, from leptotene to diplotene stages, REC8 and STAG3 colocalize in fibers. In murine oocytes, SMC1beta, SMC3 and STAG3 are localized along fibers that correspond first to the chromosome axis and then to the synaptonemal complex in pachytene. Mitotic cohesin subunit RAD21 is also found in fibers that decorate the SC during prophase I in mouse oocytes, suggesting a role for this cohesin in mammalian sister chromatid cohesion in female meiosis. We observed that, unlike human oocytes, murine synaptonemal complex protein SYCP3 localizes to nucleoli throughout prophase I stages, and centromeres cluster in discrete locations from leptotene to dictyate. At difference from meiosis in male mice, the cohesin axis is progressively lost during the first week after birth in females with a parallel destruction of the axial elements at dictyate arrest, demonstrating sexual dimorphism in sister chromatid cohesion in meiosis. 相似文献