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101.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin 总被引:14,自引:0,他引:14
Otto EA Loeys B Khanna H Hellemans J Sudbrak R Fan S Muerb U O'Toole JF Helou J Attanasio M Utsch B Sayer JA Lillo C Jimeno D Coucke P De Paepe A Reinhardt R Klages S Tsuda M Kawakami I Kusakabe T Omran H Imm A Tippens M Raymond PA Hill J Beales P He S Kispert A Margolis B Williams DS Swaroop A Hildebrandt F 《Nature genetics》2005,37(3):282-288
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4 (refs. 4-9) has linked the pathogenesis of NPHP to ciliary functions. Ten percent of affected individuals have retinitis pigmentosa, constituting the renal-retinal Senior-Loken syndrome (SLSN). Here we identify, by positional cloning, mutations in an evolutionarily conserved gene, IQCB1 (also called NPHP5), as the most frequent cause of SLSN. IQCB1 encodes an IQ-domain protein, nephrocystin-5. All individuals with IQCB1 mutations have retinitis pigmentosa. Hence, we examined the interaction of nephrocystin-5 with RPGR (retinitis pigmentosa GTPase regulator), which is expressed in photoreceptor cilia and associated with 10-20% of retinitis pigmentosa. We show that nephrocystin-5, RPGR and calmodulin can be coimmunoprecipitated from retinal extracts, and that these proteins localize to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells. Our studies emphasize the central role of ciliary dysfunction in the pathogenesis of SLSN. 相似文献
102.
Entesarian M Matsson H Klar J Bergendal B Olson L Arakaki R Hayashi Y Ohuchi H Falahat B Bolstad AI Jonsson R Wahren-Herlenius M Dahl N 《Nature genetics》2005,37(2):125-127
Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG. 相似文献
103.
Epigenetic status of human embryonic stem cells 总被引:15,自引:0,他引:15
We examined the allele-specific expression of six imprinted genes and the methylation profiles of three imprinting control regions to assess the epigenetic status of human embryonic stem cells. We identified generally monoallelic gene expression and normal methylation patterns. During prolonged passage, one cell line became biallelic with respect to H19, but without loss of the gametic methylation imprint. These data argue for a substantial degree of epigenetic stability in human embryonic stem cells. 相似文献
104.
Tuzun E Sharp AJ Bailey JA Kaul R Morrison VA Pertz LM Haugen E Hayden H Albertson D Pinkel D Olson MV Eichler EE 《Nature genetics》2005,37(7):727-732
Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease. 相似文献
105.
Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors 总被引:14,自引:0,他引:14
Ostendorff HP Peirano RI Peters MA Schlüter A Bossenz M Scheffner M Bach I 《Nature》2002,416(6876):99-103
106.
Constância M Hemberger M Hughes J Dean W Ferguson-Smith A Fundele R Stewart F Kelsey G Fowden A Sibley C Reik W 《Nature》2002,417(6892):945-948
107.
108.
Kévin Baranger Yannick Marchalant Amandine E. Bonnet Nadine Crouzin Alex Carrete Jean-Michel Paumier Nathalie A. Py Anne Bernard Charlotte Bauer Eliane Charrat Katrin Moschke Mothoharu Seiki Michel Vignes Stefan F. Lichtenthaler Frédéric Checler Michel Khrestchatisky Santiago Rivera 《Cellular and molecular life sciences : CMLS》2016,73(1):217-236
109.
Anne Stephens 《Systemic Practice and Action Research》2012,25(1):1-14
Feminist Systems Theory (FST) is an emerging theory grounded in cultural ecofeminism and critical systems theory. FST’s contribution
is in a set of principles that contain implications for community development and social research. FST brings to the fore
the importance of valuing and considering the voices of people at the margins of social research and community development
projects and is an effort towards a new ontology and language of person and nature to adequately address environmental marginalization.
The ‘systems’ theory contribution to FST enriches our repertoires of methods and tools with an emphasis on systems thinking
characterised by the use of boundary analysis. FST is ideally situated to enhance systemic intervention practice, an application
of action research and participatory research practices. This paper will examine ‘process philosophy’ necessary to understand
the nature of boundary analysis and the implications for FST and praxis with relevant examples drawn from case studies of
current applications of FST in action research settings; (1) economic analysis and transition pathways; (2) policy analysis
of the Close the Gap strategy for Indigenous equality and equity in Australia; (3) a community food distribution system; and, (4) a community
health and diabetes prevention program. 相似文献
110.