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71.
Hanan Shamseldin Anas?M. Alazami Melanie Manning Amal Hashem Oana Caluseiu Brahim Tabarki Edward Esplin Susan Schelley A.?Micheil Innes Jillian?S. Parboosingh Ryan Lamont CareRare Canada Consortium Jacek Majewski Francois?P. Bernier Fowzan?S. Alkuraya 《American journal of human genetics》2015,97(6):862-868
Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized growth deficiency (microcephalic primordial dwarfism), but the genetic heterogeneity is probably more extensive. In a research protocol involving autozygome mapping and exome sequencing, we recruited a multiplex consanguineous family who is affected by severe microcephalic primordial dwarfism and tested negative on clinical exome sequencing. Two candidate autozygous intervals were identified, and the second round of exome sequencing revealed a single intronic variant therein (c.2885+8A>G [p.Ser963∗] in RTTN exon 23). RT-PCR confirmed that this change creates a cryptic splice donor and thus causes retention of the intervening 7 bp of the intron and leads to premature truncation. On the basis of this finding, we reanalyzed the exome file of a second consanguineous family affected by a similar phenotype and identified another homozygous change in RTTN as the likely causal mutation. Combined linkage analysis of the two families confirmed that RTTN maps to the only significant linkage peak. Finally, through international collaboration, a Canadian multiplex family affected by microcephalic primordial dwarfism and biallelic mutation of RTTN was identified. Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration. 相似文献
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Osama Mohamed ElShfei El-Azazy Nadra-Elwgoud Mohamed Ibrahim Abdou Amal Iskander Khalil Maha Khaled Al-Batel Qais Abdulrazak Habeeb Majeed Adawia Abdul-Ruhman Henedi Laila Mohamed Azad Tahrani 《The Korean journal of parasitology》2015,53(3):279-287
Stray cats are a common feature roaming the streets and alleys of Kuwait; they could be a source of parasites, including trematodes, that affect humans. A survey was conducted to identify feline trematodes and throw the light on their public health significance in Kuwait. Out of 240 stray cats trapped from different localities of Kuwait from June 2011 to May 2012, 59 (24.6%) were found to be infected with 14 species of trematodes. The most common were trematodes of the genus Heterophyes, particularly H. heterophyes and H. dispar that were found in respectively 15.8% and 10.8% of the cats examined. Other trematodes recorded, with lower prevalences, were Heterophyes nocens (2.9%), Haplorchis taichui (3.8%), Stictodora sawakinensis (2.1%), Stellantchasmus falcatus (1.6%), Echinochasmus japonicus (1.6%), and Mesostephanus dottrensi (1.3%). Centrocestus cuspidatus, Galactosomum fregatae, Ascocotyle sp., Mesostephanus appendiculatus, Haplorchis yokogawai, and Pygidiopsis genata showed the lowest prevalence (0.4%) and intensity. The majority of the trematodes are recorded for the first time in Kuwait and even in the Gulf region. The study reveals that stray cats are good indicators of fish-borne trematodes in the environment. As all trematodes recovered are zoonotic, their significance to public health should be considred. 相似文献
74.
Arnab Nayek Parth Sarthi Sen Gupta Shyamashree Banerjee Vishma Pratap Sur Pratyay Seth Sunit Das Rifat Nawaz Ul Islam Amal Kumar Bandyopadhyay 《Bioinformation》2015,11(8):413-415
AvailabilityADSBET2 is freely available at http://sourceforge.net/projects/ADSBET2/ for all users. 相似文献
75.
A physiological,rather than a superovulated,post‐implantation environment can attenuate the compromising effect of assisted reproductive techniques on gene expression in developing mice embryos
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Ihsan R Devi TR Yadav DS Mishra AK Sharma J Zomawia E Verma Y Phukan R Mahanta J Kataki AC Kapur S Saxena S 《DNA and cell biology》2011,30(3):163-171
The association of TP53 codon 72 polymorphism with cancer susceptibility remains uncertain and varies with ethnicity. Northeast India represents a geographically, culturally, and ethnically isolated population. The area reports high rate of tobacco usage in a variety of ways of consumption, compared with the rest of Indian population. A total of 411 cancer patients (161 lung, 134 gastric, and 116 oral) and 282 normal controls from the ethnic population were analyzed for p53 codon 72 polymorphism by polymerase chain reaction-restriction fragment length polymorphism. No significant difference in genotypic distribution of p53 between cases and controls was observed. Results suggested betel quid chewing as a major risk factor for all the three cancers (odds ratio [OR]=3.54, confidence interval [CI]=2.01-6.25, p<0.001; OR=1.74, CI=1.04-2.92, p=0.03; and OR=1.85, CI=1.02-3.33, p=0.04 for lung, gastric, and oral cancers, respectively). Tobacco smoking was associated with risk of lung and oral cancers (OR=1.88, CI=1.11-3.19, p=0.01 and OR=1.68, CI=1.00-2.81, p=0.04). Interactions between p53 genotypes and risk factors were analyzed to look for gene-environment interactions. Interaction of smoking and p53 genotype was significant only for oral cancer. Interactions of betel quid with p53 genotypes in lung cancer showed significant increase for all the three genotypes, indicating a major role of betel quid (OR=5.90, CI=1.67-20.81, p=0.006; OR=5.44, CI=1.67-17.75, p=0.005; and OR=5.84, CI=1.70-19.97, p=0.005 for Arg/Arg, Arg/Pro, and Pro/Pro, respectively). In conclusion, high incidence of these cancers in northeast India might be an outcome of risk habits; further, tissue- and carcinogen-specific risk modification by p53 gene is probable. 相似文献
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Low muscle strength is observed during the peri-and postmenopausal periods, when the secretion of ovarian hormones is drastically
reduced. It is also a predictive of adverse health events as well as incident mobility limitation and disability. The objective
of the present study is to study the biochemical and the histological changes in the skeletal muscle of premature menopause-induced
rats and the possible protective role of L-carnitine. Ovariectomized (OVX) rats were gavaged with L-carnitine (100 mg/kg)
daily for 60 days starting from the second post-operative day. Serum levels of estradiol and markers of skeletal muscle damage
(creatine kinase and lactic dehydrogenase activities) were determined. Light and electron microscopic study of the quadriceps
femoris muscle (QFM) specimens were done. OVX rats showed significant decrease in the serum estradiol level with significant
increase the markers for skeletal muscle damage. Histopathological examination of the QFM showed degenerated myofibers, apoptotic
changes and compensatory hypertrophy. Degenerated mitochondria, multiple lysosomes and lipid droplets among the damaged myofibrils
were also noticed. L-carnitine administration to the OVX rats resulted in non-significant change in the serum estradiol level
with significant attenuation of skeletal muscle damage either biochemically or histopathologically. In conclusion, L-carnitine
administration recovered muscle degeneration after ovariectomy. This finding suggested that L-carnitine could be recommended in the management of post-menopausal myopathy. 相似文献
80.