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91.
Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males 总被引:1,自引:0,他引:1
Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties. In this study, we screened DNA samples from 1205 patients originally referred for fragile X syndrome (FRAX) testing, because of MR of unknown etiology and detected 8 KS patients. A similar number of males in the same age group were found to have FRAX; 3 of them had a family history of FRAX. Based on these findings, KS might be the most common cause of MR of unknown etiology among prepubertal males. Because of the significant benefits of early recognition and treatment of KS, we emphasize the importance of cytogenetic testing of all prepubertal males with cognitive impairment even without dysmorphic features. 相似文献
92.
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
93.
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
94.
Miguel Urioste María Luisa Martínez-Frías Eva Bermejo Nicols Jimnez Dolores Romero Carmen Nieto Amelia Villa 《American journal of medical genetics. Part A》1994,49(1):94-97
We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. © 1994 Wiley-Liss, Inc. 相似文献
95.
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
96.
Ulf Kristoffersson Sverre Heim Nils Mandahl Lennart Sundkvist Jan Szelest Inga Hägerstrand 《Clinical genetics》1987,32(3):169-171
A child with multiple anomalies, including growth retardation, a left-sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24→qter, while the other had monosomy 15q24→qter and a left-sided diaphragmatic hernia similar to the first child. 相似文献
97.
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
98.
Doriana Misceo Mario Ventura Verena Eder Mariano Rocchi Nicoletta Archidiacono 《Chromosome research》2003,11(4):323-326
A study was made of the organization of the chromosome orthologous to HSA16 in primates using a panel of 8 BAC probes spanning human chromosome 16. The probes were used in FISH experiments on great apes and on representatives of the Old World monkeys, New World monkeys, and lemurs. The domestic cat was used as an outgroup. The results indicate that 16p and 16q were separate chromosomes in a primate ancestor. They fused in a Catarrhini ancestor giving rise to the present day form found in HSA, great apes, and Old World monkeys. Several rearrangements were found in New World monkeys. 相似文献
99.
Theodore Kushnick Thomas G. Irons John E. Wiley Elizabeth A. Gettig Kathleen W. Rao Susan Bowyer John M. Opitz James F. Reynolds 《American journal of medical genetics. Part A》1987,28(3):567-574
Two white females, age 2 1/2 and 33 years, respectively, were investigated because of severe mental retardation associated with neurologic abnormalities, coarse face, and soft tissue syndactyly involving upper and lower limbs. Each had cytogenetic findings of a mosaic variant of Ullrich-Turner syndrome with X ring chromosome in peripheral lymphocyte and skin fibroblasts. Early X replication occurred in one-third of the X ring chromosomes; there was no evidence for X-autosome translocation involving either X and an autosomal duplication; results of studies for fragility of the X chromosomes were unremarkable. In situ hybridization with an X centromere probe was positive for the ring. To our knowledge, the unusual constellation of cytogenetic, physical, and mental findings seen in these 2 individuals has not been reported previously. 相似文献
100.
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