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991.
Hidekazu Kato Fuyu Miyake Hiroko Shimbo Makoto Ohya Hidenori Sugawara Noriko Aida Rie Anzai Mariko Takagi Mitsuko Okuda Kyoko Takano Takahito Wada Mizue Iai Sumimasa Yamashita Hitoshi Osaka 《Brain & development》2014
Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual disabilities in Europe or America after Fragile X syndrome, information on the morbidity of this disease is limited in Japan. Using the HPLC screening method we have established recently, we examined samples of urine of 105 patients (73 males and 32 females) with developmental disabilities at our medical center. And we have found a family with three ID boys with a novel missense mutation in SLC6A8. This is the second report of a Japanese family case of CTD. A systematic diagnostic system of this syndrome should be established in Japan to enable us to estimate its frequency and treatment. 相似文献
992.
Sporadic amyotrophic lateral sclerosis of long duration is associated with relatively mild TDP-43 pathology 总被引:1,自引:0,他引:1
Nishihira Y Tan CF Hoshi Y Iwanaga K Yamada M Kawachi I Tsujihata M Hozumi I Morita T Onodera O Nishizawa M Kakita A Takahashi H 《Acta neuropathologica》2009,117(1):45-53
Recently, sporadic amyotrophic lateral sclerosis (SALS), a fatal neurological disease, has been shown to be a multisystem
proteinopathy of TDP-43 in which both neurons and glial cells in the central nervous system are widely affected. In general,
the natural history of SALS is short (<5 years). However, it is also known that a few patients may survive for 10 years or
more, even without artificial respiratory support (ARS). In the present study using TDP-43 immunohistochemistry, we examined
various regions of the nervous system in six patients with SALS of long duration (10–20 years) without ARS, in whom lower
motor-predominant disease with Bunina bodies and ubiquitinated inclusions (UIs) in the affected lower motor neurons was confirmed.
One case also showed UIs in the hippocampal dentate granule cells (UDG). In all cases, except one with UDG, the occurrence
of TDP-43-immunoreactive (ir) neuronal cytoplasmic inclusions (NCIs) was confined to a few regions in the spinal cord and
brainstem, including the anterior horns. In one case with UDG, TDP-43-ir NCIs were also detected in the substantia nigra,
and some regions of the cerebrum, including the hippocampal dentate gyrus (granule cells). The number of neurons displaying
NCIs in each region was very small (1–3 per region, except the dentate gyrus). On the other hand, the occurrence of TDP-43-ir
glial cytoplasmic inclusions (GCIs) was more widespread in the central nervous system, including the cerebral white matter.
Again, however, the number of glial cells displaying GCIs in each region was very small (1–3 per region). In conclusion, compared
to the usual form of SALS, TDP-43 pathology shown in SALS of long duration was apparently mild in degree and limited in distribution,
corresponding to the relatively benign clinical courses observed. It is now apparent that SALS of long duration is actually
part of a TDP-43 proteinopathy spectrum. 相似文献
993.
Matsukawa N Ikenaka K Nanmoku K Yuasa H Hattori M Kawano M Nakazawa H Fujimori O Ueda R Ojika K 《Developmental neuroscience》2003,25(5):349-356
Hippocampal cholinergic neurostimulating peptide precursor protein (HCNP-pp) is a unique multifunctional protein, being not only the precursor of HCNP, which promotes the phenotype development of septo-hippocampal cholinergic neurons, but also the binding protein of phosphatidylethanolamine, ATP, Raf-1 kinase (known as "Raf-1 kinase inhibitory factor" in peripheral organs), and serine protease. We obtained a high-titer retroviral vector harboring HCNP-pp cDNA by the use of a modified packaging cell line and centrifugation, and by injecting it into embryonic mouse ventricles, we investigated the function of its gene product within the central nervous system (CNS). We found that efficient transduction into hippocampal pyramidal neurons can be achieved by injecting the vector into embryonic brain ventricles on embryonic day 14 (E14). Three days after receiving the intraventricular injection of the high-titer HCNP-pp retrovirus vector on E14, the tissues around the ventricles showed an overexpression of HCNP-pp. This was accompanied by a reduced amount of activated MEK and Erk (as analyzed by histochemical and Western blot methods), suggesting that HCNP-pp also regulates the MAP-kinase cascade within the CNS. Surprisingly, mouse brains that received the HCNP-pp retroviral vector showed massive malformation of the hippocampus and cerebellum when examined 30 days after birth. This shows that strictly regulated HCNP-pp gene expression is necessary for the normal development of the mouse brain, and that the moderate overexpression achieved by retroviral vector-mediated gene transfer is sufficient to cause severe abnormality of entire brain structures. 相似文献
994.
995.
Acidic pH is known to cause pain sensation through nociceptive neurons as well as taste transduction in mammals. Caenorhabditis elegans avoids an acidic environment (pH lower than approximately 4.0) formed by organic or inorganic acids. This avoidance behavior was dependent on multiple amphid chemosensory neurons, and inhibited by a mutation of capsaicin receptor homologue, and by the addition of amiloride and ruthenium red (inhibitors of proton-gated Na+ channels and capsaicin receptors, respectively). These results indicate that C. elegans recognizes protons as a nociceptive stimulus, through multiple neurons, which elicits avoidance behavior. It is of special interest that a system similar to that of mammalian signal transduction is responsible for this nematode's acid avoidance. 相似文献
996.
Makoto Yamakawa Keiichi Nakahara Toshihito Nakanishi Toshiya Nomura Mitsuharu Ueda 《Internal medicine (Tokyo, Japan)》2022,61(7):1067
After BNT162b2 messenger ribonucleic acid (mRNA) coronavirus disease 2019 (COVID-19) vaccination, a 30-year-old man developed bilateral lateral gaze palsy, diplopia, absent tendon reflexes, and ataxic gait. Serum anti-GQ1b and anti-GT1a immunoglobulin G (IgG) antibodies were strongly positive. Based on those findings, he was diagnosed with Miller Fisher syndrome (MFS). Intravenous immunoglobulin therapy was administered, and his symptoms fully recovered within approximately 3 months. To the best of our knowledge, this is the first report to describe the development of MFS after COVID-19 mRNA vaccination. 相似文献
997.
Takao Ueda Noriaki Shimada Tetsuyoshi Yokoshima Tomoko Shomura Izumi Komiya Sachihiko Shinkai 《Journal of immunoassay & immunochemistry》2013,34(4):241-255
Abstract An enzyme immunoassay has been developed for the measurement of HBK (4-amino-2-hydroxybutylyldibekacin) a new semisynthetic aminoglycoside antibiotic. Antisera were raised in rabbits by immunization with HBK conjugated to bovine serum albumin (BSA). 3′-Eno-HBK conjugated to alkaline phosphatase (ALP) was used as an enzyme labeled antigen. The antibody-bound drug was separated from free using goat anti-rabbit IgG serum. The assay can be completed within one hr by co-incubating the first and the second antibody. The present immunoassay allows detection of 10 ng HBK per ml of serum, and is applicable for monitoring HBK level in blood. HBK concentrations in human sera were determined by the immunoassay during and after infusion and the levels were compared with those determined by high performance liquid chromatography (HPLC) and antimicrobial assay. 相似文献
998.
999.
Masaki Magari Mika Ikeda Miki Asakura Naoki Kanayama Masami Ogawa Hitoshi Ohmori 《Immunopharmacology and immunotoxicology》2013,35(3):491-500
A nasal formulation of mometasone furoate (MF) is advantageous in avoiding systemic activity characteristic of glucocorticoids when it is applied topically. To confirm antiallergic effects of this glucocorticoid formulation elaborately, we investigated whether the drug can suppress the production of IgE antibodies and related cytokines. It we showed that IgE production induced in mice immunized via intranasal route was significantly reduced when the mice were administered MF intranasally. Further, MF was effective in inhibiting production of type-2 helper T cell cytokines in vivo and in vitro. These results provide a immunopharmacological basis for clinical efficacy of this drug. 相似文献
1000.