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21.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination 总被引:20,自引:0,他引:20
Otto EA Schermer B Obara T O'Toole JF Hiller KS Mueller AM Ruf RG Hoefele J Beekmann F Landau D Foreman JW Goodship JA Strachan T Kispert A Wolf MT Gagnadoux MF Nivet H Antignac C Walz G Drummond IA Benzing T Hildebrandt F 《Nature genetics》2003,34(4):413-420
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic renal failure in children. The genes mutated in NPHP1 and NPHP4 have been identified, and a gene locus associated with infantile nephronophthisis (NPHP2) was mapped. The kidney phenotype of NPHP2 combines clinical features of NPHP and polycystic kidney disease (PKD). Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus. We show molecular interaction of inversin with nephrocystin, the product of the gene mutated in NPHP1 and interaction of nephrocystin with beta-tubulin, a main component of primary cilia. We show that nephrocystin, inversin and beta-tubulin colocalize to primary cilia of renal tubular cells. Furthermore, we produce a PKD-like renal cystic phenotype and randomization of heart looping by knockdown of invs expression in zebrafish. The interaction and colocalization in cilia of inversin, nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination. 相似文献
22.
Hubert Bader Klaus Dorn Bernd Hupfer Helmut Ringsdorf 《Cellular and molecular life sciences : CMLS》1991,47(1):A15-A23
Posters
Membrane biology and signal transduction 相似文献23.
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Hubert Bloch 《Cellular and molecular life sciences : CMLS》1960,16(6):255-258
Zusammenfassung Der vorstehende Artikel enthält eine allgemeine Diskussion über die Grenzen der Spezifität, die der erworbenen Resistenz gegen Infektionskrankheiten zugrunde liegt. Es wird die These vertreten, dass spezifische Mechanismen von grösserer Bedeutung sind als häufig angenommen wird und dass sog. unspezifische Abwehrkräfte in vielen Fällen sich nicht von echten Antikörpern unterscheiden lassen. 相似文献
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Reconstruction of gene association network reveals a transmembrane protein required for adipogenesis and targeted by PPARγ 总被引:1,自引:0,他引:1
Juliane G. Bogner-Strauss Andreas Prokesch Fatima Sanchez-Cabo Dietmar Rieder Hubert Hackl Kalina Duszka Anne Krogsdam Barbara Di Camillo Evelyn Walenta Ariane Klatzer Achim Lass Montserrat Pinent Wing-Cheong Wong Frank Eisenhaber Zlatko Trajanoski 《Cellular and molecular life sciences : CMLS》2010,67(23):4049-4064
29.
Bipolar supercurrent in graphene 总被引:3,自引:0,他引:3
Graphene--a recently discovered form of graphite only one atomic layer thick--constitutes a new model system in condensed matter physics, because it is the first material in which charge carriers behave as massless chiral relativistic particles. The anomalous quantization of the Hall conductance, which is now understood theoretically, is one of the experimental signatures of the peculiar transport properties of relativistic electrons in graphene. Other unusual phenomena, like the finite conductivity of order 4e(2)/h (where e is the electron charge and h is Planck's constant) at the charge neutrality (or Dirac) point, have come as a surprise and remain to be explained. Here we experimentally study the Josephson effect in mesoscopic junctions consisting of a graphene layer contacted by two closely spaced superconducting electrodes. The charge density in the graphene layer can be controlled by means of a gate electrode. We observe a supercurrent that, depending on the gate voltage, is carried by either electrons in the conduction band or by holes in the valence band. More importantly, we find that not only the normal state conductance of graphene is finite, but also a finite supercurrent can flow at zero charge density. Our observations shed light on the special role of time reversal symmetry in graphene, and demonstrate phase coherent electronic transport at the Dirac point. 相似文献