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61.
Clinical,immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study 总被引:5,自引:0,他引:5
Plebani A Soresina A Rondelli R Amato GM Azzari C Cardinale F Cazzola G Consolini R De Mattia D Dell'Erba G Duse M Fiorini M Martino S Martire B Masi M Monafo V Moschese V Notarangelo LD Orlandi P Panei P Pession A Pietrogrande MC Pignata C Quinti I Ragno V Rossi P Sciotto A Stabile A;Italian Pediatric Group for XLA-AIEOP 《Clinical immunology (Orlando, Fla.)》2002,104(3):221-230
A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG. 相似文献
62.
Daniel Ka Leung Cheuk Susanna Yuk Han Li Virginia Wong 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2006,(2):123-125
Dopamine transporter (DAT) gene is implicated in the pathogenesis of attention deficit hyperactivity disorder (ADHD). Previously a meta-analysis concluded no association between the variable-number-of-tandem-repeats (VNTR) polymorphisms of the DAT gene and ADHD. However, significant heterogeneity was present among studies and no conclusion can be drawn about the association in any single ethnicity given the small number of studies. There were also conflicting results in Chinese populations. We therefore perform the present study to investigate the association in Chinese children in Hong Kong. In this prospective family-based and case-control study during January to June 2004, we recruited consecutive Chinese children diagnosed with ADHD by DSM-IV criteria, their family members, and sex-matched controls admitted for acute upper respiratory infection, excluding those with perinatal brain insults, mental retardation, or neurological deficits. VNTR polymorphisms of the DAT gene were determined by standard PCR followed by agarose gel electrophoresis. Sixty-four ADHD cases (52 boys, 12 girls), their family members and 64 normal controls were recruited. The 10-repeat allele (92.6%) and the 10/10 repeat genotype (85.2%) were the most prevalent. Both family-based and case-control analyses showed no association between the DAT gene polymorphisms and ADHD (transmission dysequilibrium test: P = 0.99; odds ratio of 10-repeat allele = 0.89 (95%CI 0.35-2.28), P = 0.81; odds ratio of 10/10 repeat genotype = 0.69 (95%CI 0.26-1.84), P = 0.46). We concluded that VNTR polymorphism of the DAT gene is not associated with ADHD in Chinese children, and further studies are needed to clarify the polygenic and environmental influences for pathogenesis of ADHD. 相似文献
63.
Summary Ca2+-ATPase activity has been shown to be associated with the nerve terminal plasma membrane at the frog neuromuscular junction. Using a modification of the Wachstein-Meisel procedure for localization of phosphatases, a dense reaction product forms at the neuronal plasma membrane/Schwann cell interface. It has been determined that this reaction product is associated with the plasma membrane of the nerve terminal and not the plasma membrane of the Schwann cell. No ATPase activity is demonstrated at the presynaptic portion of the plasma membrane facing the synaptic gap. When a preparation is denervated, a Schwann cell process moves into the space previously occupied by the nerve. There is no ATPase activity associated with the Schwann cell plasma membrane. Conversely, when the Schwann cell is selectively injured, dense reaction product continues to be associated with the nerve terminal plasma membrane. There is some indication that this ATPase activity is dependent on the presence of Ca2+ and Mg2+. Incubation in the calmodulin inhibitor, R24571, shows little inhibition of labelling. 相似文献
64.
Antti Hervonen Ilona Linnoila Virginia M. Pickel Pauli Helén Markku Pelto-Huikko Hannu Alho Richard J. Miller 《Neuroscience》1981,6(3):323-330
Both [Leu5]- and [Met5]-enkephalin have been localized immunohistochemically in nerve fibres and in small, intensely fluorescent cells of adult human sympathetic ganglia. The nerve fibres showing enkephalin-like immunoreactivity formed a network varying in density around the sympathetic neurons, some being closely related to the perikarya. No labelled neuronal cell bodies were found. No structures within the ganglion were labelled after reaction with antibodies to vasoactive intestinal polypeptide, adrenocorticotrophin or substance P. No differences between the distributions of [Leu5]-and [Met5]-enkephalin-like immunoreactivities were found.The physiological roles of enkephalins are still unknown, but it is possible that they might act as neurotransmitters or neuromodulators in the human sympathetic nervous system. 相似文献
65.
Virginia A Reed G Christian Jernstedt Mark Ballow Robert K Bush Anita T Gewurz Stephen J McGeady 《Academic medicine》2004,79(11):1062-1066
Graduate medical education programs face new challenges as they seek to comply with the mandate from the Accreditation Council on Graduate Medical Education to demonstrate that they are teaching and assessing residents on the six core competencies. The authors describe a project designed as a collaborative venture between the American Academy of Allergy, Asthma, and Immunology (AAAAI) and the Center for Educational Outcomes at Dartmouth College (CEdO) to provide residency programs in allergy/immunology with resources for teaching and assessing the core competencies. The goal was to create a set of learning and assessment resources that maximized the content knowledge expertise provided by the AAAAI and the learning expertise provided by CEdO. A highly interactive, iterative process was used to create a set of Web-based modules. Bilateral communication, buy-in, and active involvement in the process were seen as crucial to the development of resources and their successful implementation. Approximately 18 months after the modules were made available to training program directors, 80% of the directors surveyed were aware of and had accessed the modules. The joint creation process used in this project, designed to be generally applicable across specialties, reveals how the burden of meeting new requirements can be decreased when experts in content knowledge and experts in learning collaborate. 相似文献
66.
67.
Natalie M. Gallant Kathryn E. Singh Candida Brown Virginia Kimonis Eric A. Muller II 《American journal of medical genetics. Part A》2019,179(3):498-502
ALG11‐Congenital Disorder of Glycosylation (ALG11‐CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11‐CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts synthesized truncated precursor glycan structures, consistent with ALG11‐CDG, while also showing hypoglycosylation of a novel biomarker, GP130. Surprisingly, one patient presented with normal transferrin glycosylation profile, a feature that has not been reported previously in patients with ALG11‐CDG. Together, our data expand the clinical and mutational spectrum of ALG11‐CDG. 相似文献
68.
Alkuraya FS Lin AE Irons MB Kimonis VE 《American journal of medical genetics. Part A》2005,(2):226-230
Fryns syndrome is an autosomal recessive multiple congenital anomaly/mental retardation syndrome characterized by coarse face, distal limb hypoplasia, and diaphragmatic anomalies. We describe a newborn girl with Fryns syndrome and Hirschsprung disease, an association that has been reported in five previous cases. These patients support the hypothesis that the neural crest plays a role in the pathogenesis of Fryns syndrome. Clinically asymptomatic or subtle anomalies that are in the spectrum of neural crest maldevelopment should be sought in all patients with Fryns syndrome including stillbirths, neonatal deaths, as well as long-term survivors. We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes. 相似文献
69.
Hosal SA Apel RL Freeman JL Azadian A Rosen IB LiVolsi VA Asa SL 《Endocrine pathology》1997,8(1):21-28
Molecular analyses of thyroid tumors have documented mutations in the tumor suppressor p53 gene almost exclusively in anaplastic
carcinomas. In contrast, immunohistochemistry has localized p53 in differentiated papillary and follicular thyroid cancers.
To establish the significance of p53 immunolocalization in these lesions, 78 thyroid tumors of follicular derivation were
examined. All tumors were classified by strict criteria and the extent of tumor was determined morphologically. Immunohistochemical
staining for p53 was performed on paraffin sections of formalin-fixed tumor tissue. The results of staining were correlated
with diagnosis, tumor extent and clinical outcome. Immunopositivity for p53 was diffuse and strong in all five anaplastic
carcinomas examined. There was no staining in five of six follicular adenomas. Four of nine follicular carcinomas had some
degree of nuclear staining, but this was focal; all nine tumors were confined to the thyroid at the time of examination. Of
49 papillary carcinomas, 26 were intrathyroidal, and 7 of these were occult; there was no p53 positivity in any occult lesion
and only 5 of the 19 palpable lesions stained. In contrast, among 23 papillary carcinomas with extrathyroidal extension or
metastases, only 9 were negative for p53 immunoreactivity. Five of seven tall cell papillary carcinomas and one of two insular
carcinomas had p53 immunopositivity and this correlated with aggressive behavior. These results support the tumorigenic role
of p53 mutations postulated for anaplastic thyroid carcinomas and indicate that localization of p53 by immunohistochemistry
is a useful prognostic index of clinical behavior in differentiated thyroid carcinomas of follicular cell derivation. 相似文献
70.
The role of intraoperative frozen section in certain organ systems such as the thyroid continues to be problematic. In many
cases, diagnoses are deferred or nonhelpful—“follicular lesion.” In the modern era, the widespread use of preoperative aspiration
biopsy has allowed for more careful selection of patients who undergo thyroid surgery. In many cases, the fine-needle-aspiration
(FNA) biopsy diagnosis can be definitive or can guide the specific surgical procedure. The literature supports our approach,
which is summarized as follows: Intraoperative consultation is not needed on the intrathyroidal nodule if a preoperative FNA
was definitive for papillary carcinoma. Frozen section is of no value in the intraoperative diagnosis of lesions diagnosed
on FNA as “follicular neoplasm” or “Hürthle cell neoplasm” because the characterization of these lesions requires detailed
analysis of the tumor capsule for the demonstration of capsular and/or vascular invasion—an analysis that is not practical
in the intraoperative setting. Finally, intraoperative consultation including frozen section and intraoperative cytologic
examination is most useful in those cases that are diagnosed as suspicious for papillary carcinoma by FNA, because the assessment
of nuclear features needed for the definitive diagnosis is possible with intraoperative techniques in a significant number
of cases. 相似文献