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排序方式: 共有2909条查询结果,搜索用时 15 毫秒
991.
Yuka Asai Aida Eslami C. Dorien van Ginkel Loubna Akhabir Ming Wan David Yin George Ellis Moshe Ben-Shoshan Ingo Marenholz David Martino Manuel A. Ferreira Katrina Allen Bruce Mazer Hans de Groot Nicolette W. de Jong Roy Gerth van Wijk Anthony E.J. Dubois Sarah Grosche Denise Daley 《The Journal of allergy and clinical immunology》2018,141(4):1513-1516
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Alistair T. Pagnamenta Pamela J. Kaisaki Fenella Bennett Emma Burkitt-Wright Hilary C. Martin Matteo P. Ferla John M. Taylor Lianne Gompertz Nayana Lahiri Katrina Tatton-Brown Ruth Newbury-Ecob Alex Henderson Shelagh Joss Astrid Weber Jenny Carmichael Peter D. Turnpenny Shane McKee Francesca Forzano Tazeen Ashraf Kimberley Bradbury Deborah Shears Usha Kini Anna de Burca The DDD Study Edward Blair Jenny C. Taylor Helen Stewart 《Clinical genetics》2019,95(6):693-703
Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR1 may be associated with both dominant and recessive forms. Seeking to describe the phenotypic characteristics of LZTR1-associated NS, we searched for likely pathogenic variants using two approaches. First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). One patient also had biallelic loss-of-function mutations in NEB, consistent with a composite phenotype. After removing this complex case, analysis of human phenotype ontology terms indicated significant phenotypic similarities (P = 0.0005), supporting a causal role for LZTR1. Second, targeted sequencing of eight unsolved NS-like cases identified biallelic LZTR1 variants in three further subjects (p.W469*/p.Y749C, p.W437*/c.-38T>A and p.A461D/p.I462T). Our study strengthens the association of LZTR1 with NS, with de novo mutations clustering around the KT1-4 domains. Although LZTR1 variants explain ~0.1% of cases across the DDD cohort, the gene is a relatively common cause of unsolved NS cases where recessive inheritance is suspected. 相似文献
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Philip J. Ostrowski Anna Zachariou Chey Loveday Ana Beleza‐Meireles Marta Bertoli John Dean Andrew G. L. Douglas Ian Ellis Alison Foster John M. Graham Jennifer Hague Yvonne Hilhorst‐Hofstee Mariette Hoffer Diana Johnson Dragana Josifova Sarina G. Kant Usha Kini Katherine Lachlan Wayne Lam Melissa Lees Sally Lynch Silvia Maitz Shane McKee Kay Metcalfe Katherine Nathanson Charlotte W. Ockeloen Michael J. Parker Tyler M. Pierson Elisa Rahikkala Pedro A. Sanchez‐Lara Alice Spano Lionel Van Maldergem Trevor Cole Sofia Douzgou Katrina Tatton‐Brown 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(4):557-564
CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely pathogenic CHD8 variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p < .01). All patients presented with intellectual disability, with 85% in the mild or moderate range, and 85% had a height and/or head circumference ≥2 standard deviations above the mean, meeting our clinical criteria for overgrowth. Behavioral problems were reported in the majority of patients (78%), with over half (56%) either formally diagnosed with an autistic spectrum disorder or described as having autistic traits. Additional clinical features included neonatal hypotonia (33%), and less frequently seizures, pes planus, scoliosis, fifth finger clinodactyly, umbilical hernia, and glabellar hemangioma (≤15% each). These results suggest that, in addition to its established link with autism and intellectual disability, CHD8 causes an overgrowth phenotype, and should be considered in the differential diagnosis of patients presenting with increased height and/or head circumference in association with intellectual disability. 相似文献
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Heon Yung Gee Pawaree Saisawat Shazia Ashraf Toby W. Hurd Virginia Vega-Warner Humphrey Fang Bodo B. Beck Olivier Gribouval Weibin Zhou Katrina A. Diaz Sivakumar Natarajan Roger C. Wiggins Svjetlana Lovric Gil Chernin Dominik S. Schoeb Bugsu Ovunc Yaacov Frishberg Neveen A. Soliman Hanan M. Fathy Heike Goebel Julia Hoefele Lutz T. Weber Jeffrey W. Innis Christian Faul Zhe Han Joseph Washburn Corinne Antignac Shawn Levy Edgar A. Otto Friedhelm Hildebrandt 《The Journal of clinical investigation》2013,123(8):3243-3253
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes. We combined homozygosity mapping with whole-exome resequencing and identified an ARHGDIA mutation that causes SRNS. We demonstrated that ARHGDIA is in a complex with RHO GTPases and is prominently expressed in podocytes of rat glomeruli. ARHGDIA mutations (R120X and G173V) from individuals with SRNS abrogated interaction with RHO GTPases and increased active GTP-bound RAC1 and CDC42, but not RHOA, indicating that RAC1 and CDC42 are more relevant to the pathogenesis of this SRNS variant than RHOA. Moreover, the mutations enhanced migration of cultured human podocytes; however, enhanced migration was reversed by treatment with RAC1 inhibitors. The nephrotic phenotype was recapitulated in arhgdia-deficient zebrafish. RAC1 inhibitors were partially effective in ameliorating arhgdia-associated defects. These findings identify a single-gene cause of NS and reveal that RHO GTPase signaling is a pathogenic mediator of SRNS. 相似文献
1000.
David C. Agerter Bernard Morrey William O. Roberts Katrina Sullivan William Bryan Gary Gorlick 《The Physician and sportsmedicine》2013,41(9):31-32
‘Pearls’ enables sports medicine professionals to share their practical tips for treating patients. We invite you to send your contributions to Pearls Editor, THE PHYSICIAN AND SPORTSMEDICINE, 4530 W 77th St, Minneapolis, MN 55435. Address electronic submissions to psmpearls@mcgraw-hill. com. Illustrations or photos are encouraged. Selected pearls will be published, accompanied by the author's name. 相似文献