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131.
Masayuki Sasaki Noriko Sumitomo Yuko Shimizu‐Motohashi Eri Takeshita Kenji Kurosawa Kenjiro Kosaki Kazuhiro Iwama Takeshi Mizuguchi Naomichi Matsumoto 《Developmental medicine and child neurology》2021,63(1):111-115
A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases of infantile‐onset cerebellar ataxia, due to two different ATP1A3 variants. Both patients showed slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms. Brain magnetic resonance imaging revealed mild cerebellar cortical atrophy in both patients. Whole exome sequencing revealed a de novo heterozygous variant in ATP1A3 in both patients. One patient had the c.460A>G (p.Met154Val) variant, while the other carried the c.1050C>A (p.Asp350Lys) variant. This phenotype was characterized by a slowly progressive cerebellar ataxia since the infantile period, which has not been previously described in association with ATP1A3 variants or in ATP1A3‐related clinical conditions. Our report contributes to extend the phenotypic spectrum of ATP1A3 mutations, showing paediatric slowly progressive cerebellar ataxia with mild cerebellar atrophy alone as an additional clinical presentation of ATP1A3‐related neurological disorders. 相似文献
132.
Riyo Ueda Yoshimi Kaga Yosuke Kita Miho Tanaka Masaki Iwasaki Eri Takeshita Yuko Shimizu-Motohashi Akihiko Ishiyama Takashi Saito Eiji Nakagawa Kenji Sugai Masayuki Sasaki Takashi Okada Masumi Inagaki 《Brain & development》2021,43(2):280-287
IntroductionAn alteration in postoperative cognitive function varies according to the patients’ background characteristics, such as etiology, focus, and seizure duration. Accurate prediction and assessment of postoperative cognitive function is difficult in each patient. Adaptive behavior could describe the typical performance of daily activities and represents the ability to translate cognitive potential into real-world skills. We examined the relationship between alterations of executive function (EF) and adaptive behavior in school children undergoing surgery for intractable epilepsy.MethodologyWe enrolled 31 children with focal resection or corpus callosotomy for intractable epilepsy [mean age at surgery, 12.5 years; 16 boys; mean intellectual quotient, 73.3]. We surveyed answered questionnaires on attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and adaptive behavior using the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II), and performed continuous performance tests (CPTs) on children pre- and postoperatively.ResultADHD and ASD symptoms improved after epilepsy surgery. The omission error (OE) in the CPT variable improved after epilepsy surgery, especially in children with a shorter preoperative period. Improved ASD symptoms led to an increased score of the coping skills subdomain. The reduced OE observed after surgery also increased the score of the community skills subdomain.ConclusionImprovement in EF and ASD symptoms resulted in better adaptive behavior postoperatively. These results were important for the pre- and postoperative evaluation and re-evaluation of children with epilepsy requiring special education and related services. 相似文献
133.
Daisuke Tajima Takuji Nakamura Fumio Ichinose Nobuhiko Okamoto Yuko Tomonoh Keiko Uda Rie Furukawa Katsuya Tashiro Muneaki Matsuo 《Brain & development》2021,43(3):482-485
Paroxysmal abnormal eye movement in early infancy is one of the initial symptoms of glucose transporter 1 deficiency syndrome (GLUT1DS). We describe four early infants with transient hypoglycorrhachia presenting with abnormal eye movements. Their symptoms disappeared after the introduction of a ketogenic diet (KD), and their development was normal. Since no variants in SLC2A1 were detected, the CSF-to-blood glucose ratios (C/B) were re-examined, and within normal range. None of the four patients displayed recurrent symptoms after withdrawal from the KD. Because long-term KD has potential adverse effects and could affect the quality of life of patients and their families, re-examination of CSF glucose during late infancy should be considered in the case of absence of the SLC2A1 pathogenic variant. 相似文献
134.
Masayuki Nakajima Masashi Matsuyama Naoki Arai Hideyasu Yamada Kentaro Hyodo Mizu Nonaka Haruna Kitazawa Kazufumi Yoshida Rie Shigemasa Yuko Morishima Takumi Kiwamoto Hironori Masuko Yukio Ishii Masafumi Muratani Takefumi Saito Nobuyuki Hizawa 《The Journal of allergy and clinical immunology》2021,147(2):772-775
135.
Yukitomo Ishi Ai Shimizu Emi Takakuwa Minako Sugiyama Michinari Okamoto Hiroaki Motegi Shinsuke Hirabayashi Yuko Cho Akihiro Iguchi Atsushi Manabe Sumihito Nobusawa Shinya Tanaka Shigeru Yamaguchi 《Pathology international》2021,71(5):348-354
A 5-year-old girl presented with headache and vomiting. Head computed tomography and magnetic resonance imaging showed a right frontal lobe tumor with marked calcification. The patient underwent resection surgery with suspicion of anaplastic ependymoma, and the tumor was gross totally removed. Pathological examination revealed areas of dense tumor cells with a high nucleocytoplasmic ratio and myxoid areas consisting of tumor cells with a round-shaped nucleus and eosinophilic cytoplasm. Perivascular pseudorosette, necrosis, circumscribed growth, and microcalcification were also observed. Immunohistochemistry demonstrated negative staining for glial fibrillary protein and epithelial membrane antigen. Diagnosis of a high-grade neuroepithelial tumor (HGNET) with BCL6 corepressor (BCOR) alteration was made based on pathological findings and internal tandem duplication in the exon 15 of BCOR. Although calcification on radiological and pathological examination is not typical, it would be essential to recognize that calcification could appear in HGNET-BCOR. 相似文献
136.
Kenta Takahashi Yasunori Sato Minako Yamamura Satoko Nakada Yuko Tamano Motoko Sasaki Kenichi Harada 《Pathology international》2021,71(8):521-529
The Notch signaling pathway plays a key role in the morphogenesis of the biliary tree, but its involvement in cystic biliary diseases, such as Caroli disease (CD) and polycystic liver disease (PLD), has yet to be determined. Immunostaining was performed using liver sections of CD and PLD, and the results were compared with those of congenital hepatic fibrosis (CHF) and von Meyenburg complex (VMC). The expression of Notch receptor 1 (Notch1) was increased in the nuclei of biliary epithelial cells in all cases of CD and PLD, whereas it remained at a low level in CHF and VMC. In addition, Notch2 and Notch3 were preferably expressed in the nuclei of biliary epithelial cells of PLD. Accordingly, the Notch effector Hes1 was highly expressed in biliary epithelial cells of CD and PLD, and the cell proliferative activity was significantly higher in CD and PLD. The expression of the Notch ligand Delta-like 1 was significantly increased in biliary epithelial cells of CD and PLD, which may be causally associated with the nuclear overexpression of Notch1 and Hes1. These results indicate that aberrant activation of the Notch-Hes1 signaling pathway may be responsible for the progression of biliary cystogenesis in CD and PLD. 相似文献
137.
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139.
Hashimoto Naoto Tominaga Naoki Wakagi Manabu Ishikawa-Takano Yuko 《Journal of natural medicines》2020,74(1):252-256
Journal of Natural Medicines - The lycopene content of tomatoes is important because of its effects on vital physiological functions such as improvement of glucose tolerance and non-alcoholic fatty... 相似文献