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31.
Thai Leong Yap Shin Yee Hong Jun Hui Soh Lekha Ravichandraprabhu Vanessa W.X. Lim Hsi-Min Chan Tommy Z.X. Ong Ying Ping Chua Shi En Koh Huajing Wang Yee Sin Leo Jackie Y. Ying William Sun 《Emerging infectious diseases》2021,27(5):1427
Dengue virus (DENV) and Zika virus (ZIKV) belong to the Flaviviridae family of viruses spread by Aedes aegypti mosquitoes in tropical and subtropical areas. Accurate diagnostic tests to differentiate the 2 infections are necessary for patient management and disease control. Using characterized ZIKV and DENV patient plasma in a blind manner, we validated an ELISA and a rapid immunochromatographic test for ZIKV detection. We engineered the ZIKV nonstructural protein 1 (NS1) for sensitive serologic detection with low cross reactivity against dengue and developed monoclonal antibodies specific for the ZIKV NS1 antigen. As expected, the serologic assays performed better with convalescent than acute plasma samples; the sensitivity ranged from 71% to 88%, depending on the performance of individual tests (IgM/IgG/NS1). Although serologic tests were generally less sensitive with acute samples, our ZIKV NS1 antibodies were able to complement the serologic tests to achieve greater sensitivity for detecting early infections. 相似文献
32.
Zika病毒(Zika virus,ZIKV)是一种新发的虫媒病毒,伊蚊是其主要的传播媒介。Zika病毒感染后主要引起发热,皮疹,关节痛等轻症症状。2015年起,Zika病毒在拉丁美洲及南美洲多个国家流行,并且Zika病毒感染患者不仅出现发热,皮疹和关节痛等症状,还发现Zika病毒病的流行与婴儿小头畸形,格林巴利综合征,病毒性脑膜炎病例的发生相关。不仅如此,Zika病毒感染还可以通过性途径传播。因此,从病毒感染症状的复杂性来看,目前流行的Zika病毒已经与1947年刚发现时的Zika病毒完全不同,而是成为了一种“新病毒”。 本文系统地梳理总结了Zika病毒感染相关的最新研究进展,并提出Zika病毒及其感染是对虫媒病毒传染病的新挑战的概念。 相似文献
33.
Adrija Hajra Dhrubajyoti Bandyopadhyay Lyndsey R. Heise Rajarshi Bhadra Somedeb Ball Shyamal Kumar Hajra 《American journal of reproductive immunology (New York, N.Y. : 1989)》2017,77(2)
Zika virus (ZIKV) infection is a well‐nurtured topic for healthcare personnel nowadays. Central nervous system involvement including microcephaly and ocular involvements has already been reported in neonates of affected pregnant ladies. In this article, we have discussed these effects on the newborns of ZIKV‐infected mothers. The proposed pathogenesis, modes of transmission of this infection from mothers to the fetuses, diagnosis of the cases and precaution for the pregnant ladies have also been discussed. We have gathered the recently available data on the risk of ZIKV for expectant mothers from PubMed, https://www.gov.uk/guidance/zika-virus as well as from centers for disease control and prevention websites. 相似文献
34.
Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin facies. He developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth, and became generally osteoporotic at the age of 2 years. He had persistently elevated 1,25-dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcaemia. At autopsy, microcalcifications were found in the brain and kidneys. The present report underscores the familial occurrence of Williams syndrome of severe degree. Elevated 1,25-dihydroxyvitamin D levels without hypercalcaemia have not been reported previously, and may suggest causal heterogeneity of the Williams syndrome. 相似文献
35.
Jyotsna Murthy Ramesh Babu Padmasani Venkat Ramanan 《Indian Journal of Plastic Surgery》2008,41(1):76-78
The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases. 相似文献
36.
B. Durmaz B. Wollnik O. Cogulu Y. Li H. Tekgul F. Hazan F. Ozkinay 《Journal of neurology》2009,256(3):416-419
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem.
Recently a rare, novel form of PCH has been reported called cerebellar atrophy with progressive microcephaly (CLAM). Here
we report a second family of CLAM with additional phenotypic features and novel molecular findings. Three-year old index patient
had severe developmental delay and presented with short stature and microcephaly. Her cranial magnetic resonance imaging revealed
hypoplasia of the cerebellum, brainstem and cerebrum associated with hypoplasia of the corpus callosum. Brainstem auditory
evoked potentials revealed hearing loss and visual evoked potentials confirmed the optic atrophy. She also had seizures with
two posterior epileptic foci on electroencephalogram. Molecular analysis revealed a homozygous haplotype between the markers
D7S802 and D7S630 within the originally linked region, narrowing the critical region from 20 Mb to 7 Mb. Two highly relevant
candidate genes, CROT and SLC25A40 located in this region were sequenced, but no causative mutations identified. Our case
provides additional clinical characteristics on the previously described features of this new entity, and reducing the critical
region will now allow systematic positional cloning efforts to identify the causative gene. 相似文献
37.
Novel compound heterozygous mutations in GPT2 linked to microcephaly,and intellectual developmental disability with or without spastic paraplegia 下载免费PDF全文
《American journal of medical genetics. Part A》2018,176(2):421-425
38.
Derwińska K Smyk M Cooper ML Bader P Cheung SW Stankiewicz P 《European journal of human genetics : EJHG》2009,17(2):267-271
With the exception of the X chromosome, genomic deletions appear to be more prevalent than duplications. Because of a lack of accurate diagnostic methods, submicroscopic duplications have been under-ascertained for a long period. The development of array CGH has enabled the detection of chromosomal microduplications with nearly the same sensitivity as deletions, leading to the discovery of previously unrecognized syndromes. Using a clinical targeted oligonucleotide array (CMA-V6.3 OLIGO), we identified an approximately 360-kb duplication in 9q22.32 in a 21-month-old boy with developmental delay, failure to thrive, and microcephaly. The same duplication was identified in the patient's mother who is also microcephalic and mildly delayed. We have sequenced the chromosomal breakpoints and determined the duplication as tandem in orientation and 363 599 bp in size. The duplicated segment harbors the entire PTCH1 gene. Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7. We propose that patients with microcephaly or holoprosencephaly of unknown origin should also be screened for PTCH1 duplication. 相似文献
39.
Sandesh Chakravarthy Sreenath Nagamani Ayelet Erez Christine Eng Zhishuo Ou Craig Chinault Laura Workman James Coldwell Pawel Stankiewicz Ankita Patel James R Lupski Sau Wai Cheung 《European journal of human genetics : EJHG》2009,17(5):573-581
Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2–q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing. 相似文献