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191.
The transcription factor Engrailed-2 guides retinal axons 总被引:1,自引:0,他引:1
Brunet I Weinl C Piper M Trembleau A Volovitch M Harris W Prochiantz A Holt C 《Nature》2005,438(7064):94-98
192.
Aubin I Adams CP Opsahl S Septier D Bishop CE Auge N Salvayre R Negre-Salvayre A Goldberg M Guénet JL Poirier C 《Nature genetics》2005,37(8):803-805
The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies. 相似文献
193.
Moreira MC Klur S Watanabe M Németh AH Le Ber I Moniz JC Tranchant C Aubourg P Tazir M Schöls L Pandolfo M Schulz JB Pouget J Calvas P Shizuka-Ikeda M Shoji M Tanaka M Izatt L Shaw CE M'Zahem A Dunne E Bomont P Benhassine T Bouslam N Stevanin G Brice A Guimarães J Mendonça P Barbot C Coutinho P Sequeiros J Dürr A Warter JM Koenig M 《Nature genetics》2004,36(3):225-227
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. 相似文献
194.
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome 总被引:10,自引:0,他引:10
Fan Y Esmail MA Ansley SJ Blacque OE Boroevich K Ross AJ Moore SJ Badano JL May-Simera H Compton DS Green JS Lewis RA van Haelst MM Parfrey PS Baillie DL Beales PL Katsanis N Davidson WS Leroux MR 《Nature genetics》2004,36(9):989-993
RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the approximately 50 known members of this family are linked to human disease. Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and cognitive impairment. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. Analysis of the Caenorhabditis elegans ARL6 homolog indicates that it is specifically expressed in ciliated cells, and that, in addition to the postulated cytoplasmic functions of ARL proteins, it undergoes intraflagellar transport. These findings implicate a small GTP-binding protein in ciliary transport and the pathogenesis of a pleiotropic disorder. 相似文献
195.
During spermatogenesis in the mammalian testis, stem cells (spermatogonia) differentiate into spermatocytes, which subsequently undergo two consecutive meiotic divisions to give rise to haploid spermatids. These cells are initially round but progressively elongate, condense their nuclei, acquire flagellar and acrosomal structures, and shed a significant amount of their cytoplasm to form spermatozoa (the sperm cells) in a developmental cascade termed spermiogenesis. Defects in these processes will lead to a lack of mature sperm cells (azoospermia), which is a major cause of male infertility in the human population. Here we report that a cell-surface protein of the immunoglobulin superfamily, junctional adhesion molecule-C (JAM-C), is critically required for the differentiation of round spermatids into spermatozoa in mice. We found that Jam-C is essential for the polarization of round spermatids, a function that we attribute to its role in the assembly of a cell polarity complex. 相似文献
196.
197.
Michel Bitbol 《Foundations of Science》1995,1(1):159-160
On Association for the Foundation of Science, language and cognition, AFOS; some history and some recent developments 相似文献
198.
Rotational breakup as the origin of small binary asteroids 总被引:1,自引:0,他引:1
Asteroids with satellites are observed throughout the Solar System, from subkilometre near-Earth asteroid pairs to systems of large and distant bodies in the Kuiper belt. The smallest and closest systems are found among the near-Earth and small inner main-belt asteroids, which typically have rapidly rotating primaries and close secondaries on circular orbits. About 15 per cent of near-Earth and main-belt asteroids with diameters under 10 km have satellites. The mechanism that forms such similar binaries in these two dynamically different populations was hitherto unclear. Here we show that these binaries are created by the slow spinup of a 'rubble pile' asteroid by means of the thermal YORP (Yarkovsky-O'Keefe-Radzievskii-Paddack) effect. We find that mass shed from the equator of a critically spinning body accretes into a satellite if the material is collisionally dissipative and the primary maintains a low equatorial elongation. The satellite forms mostly from material originating near the primary's surface and enters into a close, low-eccentricity orbit. The properties of binaries produced by our model match those currently observed in the small near-Earth and main-belt asteroid populations, including 1999 KW(4) (refs 3, 4). 相似文献
199.
Michel Puech 《Foundations of Science》2017,22(2):283-286
I agree with my readers on the necessary alliance of personal agency and collective agency. My point is to prioritize the former. The reasons to prioritize the latter were excellent, and it was undoubtedly a sound decision to start with this scenario: political and institutional improvement of the collectives, enlightened by progressive social sciences. My argument for suggesting a different priority—toward personal microactions and their emergent effects—relies on the opinion that we are stuck in a sustainability crisis due to our current approach. In the question “whose agency now?”, my stress is on “now”. 相似文献
200.
EL Heinzen KJ Swoboda Y Hitomi F Gurrieri S Nicole B de Vries FD Tiziano B Fontaine NM Walley S Heavin E Panagiotakaki;European Alternating Hemiplegia of Childhood 《Nature genetics》2012,44(9):1030-1034
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent sequence analysis of ATP1A3 in 98 other patients with AHC, we found that ATP1A3 mutations were likely to be responsible for at least 74% of the cases; we also identified one inherited mutation in a case of familial AHC. Notably, most AHC cases are caused by one of seven recurrent ATP1A3 mutations, one of which was observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3. 相似文献