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21.
Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum 总被引:3,自引:0,他引:3
Li S Malafiej P Levy B Mahmood R Field M Hughes T Lockhart LH Wu Z Huang M Hirschhorn K Velagaleti GV Daniel A Warburton PE 《American journal of medical genetics》2002,110(3):258-267
We report three new cases of chromosome 13 derived marker chromosomes, found in unrelated patients with dysmorphisms and/or developmental delay. Molecular cytogenetic analysis was performed using fluorescence in situ hybridization (FISH) with chromosome-specific painting probes, alpha satellite probes, and physically mapped probes from chromosome 13q, as well as comparative genomic hybridization (CGH). This analysis demonstrated that these markers consisted of inversion duplications of distal portions of chromosome 13q that have separated from the endogenous chromosome 13 centromere and contain no detectable alpha satellite DNA. The presence of a functional neocentromere on these marker chromosomes was confirmed by immunofluorescence with antibodies to centromere protein-C (CENP-C). The cytogenetic location of a neocentromere in band 13q32 was confirmed by simultaneous FISH with physically mapped YACs from 13q32 and immunofluorescence with anti-CENP-C. The addition of these three new cases brings the total number of described inv dup 13q neocentic chromosomes to 11, representing 21% (11/52) of the current overall total of 52 described cases of human neocentric chromosomes. This higher than expected frequency suggests that chromosome 13q may have an increased propensity for neocentromere formation. The clinical spectrum of all 11 cases is presented, representing a unique collection of polysomy for different portions of chromosome 13q without aneuploidies for additional chromosomal regions. The complexity and variability of the phenotypes seen in these patients does not support a simple reductionist view of phenotype/genotype correlation with polysomy for certain chromosomal regions. 相似文献
22.
The dragon lizard <Emphasis Type="Italic">Pogona vitticeps</Emphasis> has ZZ/ZW micro-sex chromosomes 总被引:1,自引:0,他引:1
Tariq?EzazEmail author Alexander?E.?Quinn Ikuo?Miura Stephen?D.?Sarre Arthur?Georges Jennifer?A.?Marshall Graves 《Chromosome research》2005,13(8):763-776
The bearded dragon, Pogona vitticeps (Agamidae: Reptilia) is an agamid lizard endemic to Australia. Like crocodilians and many turtles, temperature-dependent
sex determination (TSD) is common in agamid lizards, although many species have genotypic sex determination (GSD). P. vitticeps is reported to have GSD, but no detectable sex chromosomes. Here we used molecular cytogenetic and differential banding techniques
to reveal sex chromosomes in this species. Comparative genomic hybridization (CGH), GTG- and C-banding identified a highly
heterochromatic microchromosome specific to females, demonstrating female heterogamety (ZZ/ZW) in this species. We isolated
the P. vitticeps W chromosome by microdissection, re-amplified the DNA and used it to paint the W. No unpaired bivalents were detected in
male synaptonemal complexes at meiotic pachytene, confirming male homogamety. We conclude that P. vitticeps has differentiated previously unidentifable W and Z micro-sex chromosomes, the first to be demonstrated in an agamid lizard.
Our finding implies that heterochromatinization of the heterogametic chromosome occurred during sex chromosome differentiation
in this species, as is the case in some lizards and many snakes, as well as in birds and mammals. Many GSD reptiles with cryptic
sex chromosomes may also prove to have micro-sex chromosomes. Reptile microchromosomes, long dismissed as non-functional minutiae
and often omitted from karyotypes, therefore deserve closer scrutiny with new and more sensitive techniques. 相似文献
23.
24.
Ameyaw MM Tayeb M Thornton N Folayan G Tariq M Mobarek A Evans DA Ofori-Adjei D McLead HL 《Journal of human genetics》2002,47(4):172-175
HER-2, a protooncogene located on chromosome 17q21, encodes a transmembrane glycoprotein (p185) with tyrosine kinase activity.
Alterations of the HER-2 gene have been implicated in the carcinogenesis and prognosis of breast cancer and other solid tumors. It is also a cancer-therapeutic
target for antibody-based therapy against the HER-2 protein. A single-nucleotide polymorphism (SNP) at codon 655, resulting in a G-to-A transition (Ile655Val) in the transmembrane
domain-coding region of this gene has been associated with an increased risk of breast cancer, particularly among younger
women. To understand the importance of this finding throughout the world, we evaluated this polymorphism in Ghanaian, Kenyan,
Sudanese, Caucasian, African–American, Saudi, and Filipino subjects using a polymerase chain reaction-restriction fragment
length polymorphism assay. The frequency of the Val allele, which is associated with increased breast cancer risk, was highly
variable between populations (0%–24%). Continental African populations had a lower frequency of the Val allele than did Saudi,
Chinese, Filipino, Caucasian, and African–American subjects. The data suggest that this SNP has variable frequency in different
ethnic groups. The findings in this study correspond with the lower incidence and lower risk of breast cancer in African women
compared with Caucasian and African–American women.
Received: December 13, 2001 / Accepted: January 16, 2002 相似文献
25.
Haseeb Khan Ahmad Saleh Al Deeb Khalaf Al Moutaery Mohammad Tariq 《Experimental and toxicologic pathology》2003,55(2-3):181-186
A direct association between aging and drug-induced dyskinesia has been reported by several investigators. Iminiodipropionitrile (IDPN), a prototype nitrile compound produces a motor syndrome in rodents, which resembles neuroleptic drug induced dyskinesia. In this investigation attempt has been made to study the effect of age on IDPN induced vestibular hair cell degeneration and resulting dyskinetic syndrome. Male Wistar rats aged 3, 6 and 12 weeks received IDPN in the doses of 0, 200 and 400 mg/kg, intraperitoneally for 3 consecutive days. IDPN-induced dyskinesia was assessed using a behavioral testing battery on days 3, 4, 5, 6, 7, 14, 21 and 28. The rats were sacrificed on day 28; temporal bones were excised for vestibular histopathology and sera were collected for measuring the indices of oxidative stress (glutathione and conjugated dienes). IDPN in the dose of 200 mg/kg produced dyskinesia in 12 weeks old rats, but failed to do so in 3 and 6 weeks old rats. The high dose of IDPN (400 mg/kg) caused dyskinesia in all age groups, however, its onset and severity were age-dependent. Older rats showed an early onset and significantly high incidence of dyskinesia as compared to younger rats. The susceptibility of rats to IDPN-induced behavioral deficits was proportional to oxidative stress and degeneration of sensory hair cells in the crista ampullaris. 相似文献
26.
27.
Bacillus thuringiensis strains produce crystal delta-endotoxins which exhibit a diverse toxicity spectrum. In order to explore the basis of toxin specificity, a comparison of the activity of 13 strains belonging to seven serotypes was made against three insect species. The delta-endotoxin crystals were purified and their polypeptide composition analyzed by SDS-PAGE. Among the strains studied, the delta-endotoxins consist of a variety of crystal proteins in the 60-144 KDa size range. On the basis of molecular mass, endotoxins maybe grouped into two classes; one contained both high (125-144 KDa, P1) and medium sized (60-66 KDa, P2) proteins and a second class consisting of only the high Mr polypeptides. Immunoblotting with B. aizawai P1 antiserum revealed antigenic cross-reaction with one or more of the polypeptides in 125-144 KDa range in all the strains studied. When the crystal proteins from different strains were immunoblotted with kurstaki P2 antiserum, none of the P1 protein crossreacted suggesting that the P1 and P2 proteins are not structurally related. However, the B. kurstaki P2 antiserum crossreacted with 66 KDa proteins in some other strains which underlines a structural homology in this class of the toxic polypeptides. Toxicity studies revealed that the high Mr P1 proteins of all the strains in this study were active against lepidopteran (Pieris brassicae and Diacrisia obliqua) larvae. B. thuringiensis aizawai strains exhibit a dual toxicity associated with the high Mr (130-135 KDa; P1) proteins. The P2 crystal proteins (60-66 KDa) also showed dual toxicity against the lepidopteran and dipteran larvae but were found to be structurally and immunologically distinct. 相似文献
28.
Ectodermal dysplasias (EDs) are developmental disorders affecting tissues of ectodermal origin including hair, nails, teeth and sweat glands. Ectodermal dysplasia of hair, nails and teeth is a rare type of congenital disorder characterized by sparse and thin hair, dystrophic finger-and toenails and missing and abnormal teeth. In an effort to understand the molecular basis of this form of ED a family of Pakistani origin with an autosomal recessive pattern of inheritance was ascertained from a remote region in Pakistan. The clinical features of the affected individuals included thin and fine hair on the scalp, dystrophic and flat nails, absent or sparse eyebrows and eyelashes, missing and abnormal teeth, and thin body hair. A human genome scan carried out using microsatellite markers mapped the disease locus in this family to chromosome 18q22.1–18q22.3. A maximum two-point LOD score of 2.73 (θ= 0.0) was obtained at marker D18S541. Multipoint linkage analysis resulted in a maximum LOD score of 3.42 obtained with several markers, including D18S1125, ATA82B02, D18S848, D18S488, D18S1091, and D18S485, which supported the linkage. The linkage interval is flanked by markers D18S857 and D18S815, which corresponds to a region of 17.32 cM according to Rutgers combined linkage and physical map (build 36). This region covers 8.63 Mb according to the sequence-based physical map. Three candidate genes, CDH7, CDH19 and ZNF407 , from the linkage interval were sequenced and found to be negative for functional sequence variants. This study is the first step towards the identification of a gene involved in hair, nails and teeth type ED. 相似文献
29.
Hasan M. Tasdik Hossain Sahadat Gupta Rajat Das Podder Vivek Mowri Naima Afroz Ghosh Anindita Mahmood Hassan Rushekh Ahmmed Faisal Khatun M. S. T. Halima Nodi Rhedeya Nury Koly Kamrun Nahar Yasmeen Sharmeen Islam Nazrul 《Zeitschrift fur Gesundheitswissenschaften》2022,30(2):465-473
Journal of Public Health - Depression is a major morbidity and the most common mental disorder among the medical students in medical schools globally. Undergraduate students suffer stress more due... 相似文献
30.
Hashaam Akhtar Maham Afridi Samar Akhtar Hamaad Ahmad Sabahat Ali Sundas Khalid Sajid Mahmood Awan Shahzaib Jahangiri Yousef Saleh Khader 《JMIR Public Health and Surveillance》2021,7(5)
The COVID-19 outbreak started as pneumonia in December 2019 in Wuhan, China. The subsequent pandemic was declared as the sixth public health emergency of international concern on January 30, 2020, by the World Health Organization. Pakistan could be a potential hotspot for COVID-19 owing to its high population of 204.65 million and its struggling health care and economic systems. Pakistan was able to tackle the challenge with relatively mild repercussions. The present analysis has been conducted to highlight the situation of the disease in Pakistan in 2020 and the measures taken by various stakeholders coupled with support from the community to abate the risk of catastrophic spread of the virus. 相似文献