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101.
Marvin A. Tañag Satoshi Takagi Mariko Takashima Kunihiro Nakai Yasuo Sakai Kenji Yano 《Journal of plastic surgery and hand surgery》2013,47(5):259-263
We report a rare case of visual improvement in a 19-year-old patient with Apert syndrome after segmental distraction with a rigid external distraction device. We used the Rigid External Distraction Device II System (R.E.D. II, KLS Martin) after Le Fort I and III osteotomies. 相似文献
102.
Shibata M Nawa H Kise Y Fuyamada M Yoshida K Katsumata A Ariji E Goto S 《The Angle orthodontist》2012,82(5):776-784
Abstract Objectives: To propose a method for evaluating the reproducibility of anatomical coordinate systems based on craniofacial skeletal landmarks and to tentatively evaluate four systems created on preoperative cone-beam computed tomography (CBCT) data obtained from mandibular prognathism patients in order to confirm the utility for actual patients' data. Materials and Methods: In three-dimensional images of 10 patients obtained by a CBCT with a large field of view, six dentists set four coordinate systems that were created in different ways, twice by plotting some landmarks situated in the superior portion of the maxillofacial skeletons. The 95% confidence ellipse of six objective landmarks related to the jaw and teeth (upper incisor, left upper first molar, lower incisor, left lower first molar, menton, and left gonion) were three-dimensionally drawn for each coordinate system. The ellipsoid volume was calculated to evaluate the reproducibility of the coordinate systems. Results: The reproducibility could be evaluated for each coordinate system using the method proposed. The coordinate systems that were created by landmarks situated at greater distances from each other showed relatively small ellipsoid volume in comparison to those with shorter distances between landmarks. Conclusion: Anatomical coordinate systems with larger distances between the landmarks used were stable when landmarks related to the jaw and teeth were assigned as objective landmarks. The method proposed here was effective in terms of the reproducibility evaluation of a coordinate system. 相似文献
103.
Hideki Kamitani Mariko Mariyama Tomokatsu Hori Susumu Nishimura 《Neurological research》2013,35(3):236-240
AbstractPoint mutations in the transmembrane domain of c-erbB-2 gene in human brain tumours were studied by DNA amplification with the polymerase chain reaction method. Amplified gene fragments in M13 phage vector were cloned, and subsequent nucleotide sequences were determined. Studied specimens were 10 human malignant and 3 human benign tumours of the central nervous system, and a normal human placenta. In malignant tissues, Val-to-Glu mutation that induces transforming activity of c-erbB-2 did not appear at codon 659 of c-erbB-2. In malignant tissues, many other types of mutations appeared in low frequency, either at codon 659 or other positions of the transmembrane domain of c-erbB-2. The ratio of mutated genes to normal genes was very low in all specimens of malignant tumours. The point mutations were not observed in benign brain tumour or normal human placental tissues. The transmembrane domain of c-erbB-2 may have several highly mutable hot spotswhere brain tumour tissues show a predilection for point mutation. 相似文献
104.
105.
Yukifumi Monden Masato MoriMari Kuwajima Tamako GotoTakanori Yamagata Mariko Y. Momoi 《Brain & development》2013
We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset Leigh syndrome (LS) when he contracted pneumonia at 6 years. He developed bulbar palsy and deep coma. MRI demonstrated lesions in the brainstem, basal ganglia, and cerebral cortex. Three similar cases have been reported; two carried the almost-homoplasmic m.8344A>G mutation in muscle tissue. These suggested that almost homoplastic m.8344A>G mutation developed clinical phenotype of MERRF in the early stage and late-onset Leigh syndrome in the late course of the disease. 相似文献
106.
Mitsuaki Iwasa Takanori Yamagata Masashi Mizuguchi Masayuki Itoh Ayumi Matsumoto Mitsugu Hironaka Ayako Honda Mariko Y. Momoi Nobuyuki Shimozawa 《Neuropathology》2013,33(3):292-298
Contiguous ABCD1 DXS1357E deletion syndrome (CADDS) is a contiguous deletion syndrome involving the ABCD1 and DXS1357E/BAP31 genes on Xq28. Although ABCD1 is responsible for X‐linked adrenoleukodystrophy (X‐ALD), its phenotype differs from that of CADDS, which manifests with many features of Zellweger syndrome (ZS), including severe growth and developmental retardation, liver dysfunction, cholestasis and early infantile death. We report here the fourth case of CADDS, in which a boy had dysmorphic features, including a flat orbital edge, hypoplastic nose, micrognathia, inguinal hernia, micropenis, cryptorchidism and club feet, all of which are shared by ZS. The patient achieved no developmental milestones and died of pneumonia at 8 months. Biochemical studies demonstrated abnormal metabolism of very long chain fatty acids, which was higher than that seen in X‐ALD. Immunocytochemistry and Western blot showed the absence of ALD protein (ALDP) despite the presence of other peroxisomal proteins. Pathological studies disclosed a small brain with hypomyelination and secondary hypoxic‐ischemic changes. Neuronal heterotopia in the white matter and leptomeningeal glioneuronal heterotopia indicated a neuronal migration disorder. The liver showed fibrosis and cholestasis. The thymus and adrenal glands were hypoplastic. Array comparative genomic hybridization (CGH) analysis suggested that the deletion was a genomic rearrangement in the 90‐kb span starting in DXS1357E/BACP31 exon 4 and included ABCD1, PLXNB3, SRPK3, IDH3G and SSR4, ending in PDZD4 exon 8. Thus, the absence of ALDP, when combined with defects in the B‐cell antigen receptor associated protein 31 (BAP31) and other factors, severely affects VLCFA metabolism on peroxisomal functions and produces ZS‐like pathology. 相似文献
107.
Purpose
The aim of the present study was to determine whether the ovarian hormones, estrogen and progesterone, had different influences on amino-acid-induced anti-hypothermic effects during general anesthesia.Methods
Ovariectomized Sprague–Dawley female rats were divided into four groups: those administered 17β-estradiol plus saline or an amino acid mixture (E2-Sal and E2-AA, respectively) and progesterone plus saline or an amino acid mixture (P-Sal and P-AA, respectively). Five weeks after ovariectomy, rats were given either E2 or P and then administered either Sal or AA solution for 180 min during anesthesia with sevoflurane. Rectal temperatures were measured.Results
Rectal temperatures were significantly higher in the E2-AA group than in the E2-Sal group 165 and 180 min after initiating the infusion of the test solutions. However, no significant differences were observed between the P-treated groups. The phosphorylation of 4E-BP1 and S6K1 was significantly greater in the E2-AA group than in the E2-Sal group (P < 0.05, P < 0.001, respectively). In contrast, the phosphorylation of 4E-BP1 was significantly lower in the P-AA group than in the P-Sal group (P < 0.001).Conclusions
These results suggest that progesterone reduces amino-acid-induced anti-hypothermic effects during general anesthesia.108.
109.
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo‐obstruction in a neonate 下载免费PDF全文
Chieko Hisamatsu Naoki Yokoyama Mariko Taniguchi‐Ikeda Hiroshi Yokozaki Kei Murayama Akira Ohtake Kyoko Itoh Yasuhiro Takeshima Kazumoto Iijima 《Pediatrics international》2016,58(7):651-655
A female infant born at 36 weeks gestational age with birthweight 2135 g, and who developed respiratory disorder, hyperlactacidemia and hypertrophic cardiomyopathy after birth, was admitted to hospital at 3 days of age. After admission, bilious emesis, abdominal distention, and passage disorder of the gastrointestinal tract were resistant to various drugs. Exploratory laparotomy was performed at 93 days of age, but no organic lesions were identified and normal Meissner/Auerbach nerve plexus was confirmed, which led to a clinical diagnosis of chronic intestinal pseudo‐obstruction (CIPO). She was diagnosed with mitochondrial respiratory chain complex IV deficiency on histopathology of the abdominal rectus muscle and enzyme activity measurement. This is the first report of a neonate with mitochondrial respiratory chain complex deficiency with intractable CIPO. CIPO can occur in neonates with mitochondrial respiratory chain disorder, necessitating differential diagnosis from Hirschsprung disease. 相似文献
110.
Prevalence of appropriate colorectal cancer screening and preferences for receiving screening advice among people attending outpatient clinics 下载免费PDF全文
Natalie Dodd Elise Mansfield Mariko Carey Christopher Oldmeadow 《Australian and New Zealand journal of public health》2018,42(4):334-339
Objective: To examine among people attending outpatient clinics aged 50–74 at average risk of colorectal cancer (CRC): 1) The proportion who report: a) faecal occult blood test (FOBT) within the past two years; and b) colonoscopy within the past five years, including the reasons for undergoing colonoscopy; 2) characteristics associated with under‐screening; 3) For those who are under‐screened, the proportion who are: a) willing to receive help and the acceptability of different methods of receiving help, and; b) unwilling to receive help and reasons for this. Methods: Cross‐sectional survey of 197 participants attending a major regional hospital in New South Wales, Australia. Multivariable logistic regression was used to determine correlates of under‐screening. Results: A total of 59% reported either FOBT in the past two years or colonoscopy in the past five years. Of those reporting colonoscopy in the past five years, 21% were potentially over‐screened. Males were more likely than females to be under‐screened. Of those under‐screened (41%), fewer than half were willing to receive screening advice. Conclusions and implications for public health: A significant proportion of people attending outpatient clinics are under‐screened for CRC, with some people also over‐screened. There is a need to explore strategies to overcome both under‐ and over‐screening. 相似文献