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排序方式: 共有737条查询结果,搜索用时 31 毫秒
731.
Paolo Boscolo‐Rizzo Lea Schroeder Valeria Sacchetto Dana Holzinger Maria Cristina Da Mosto Giancarlo Tirelli Elisa Dal Cin Monica Mantovani Anna Menegaldo Annarosa Del Mistro Salvatore Romeo Angelo Paolo Dei Tos Monia Niero Stefania Rigo Gerhard Dyckhoff Jochen Hess Laia Alemany Miquel Quer Xavier Len Jerry Polesel Michael Pawlita Roberta Bertorelle 《Head & neck》2019,41(11):3833-3841
732.
Monia Cecati Matteo Giulietti Alessandra Righetti Berina Sabanovic Francesco Piva 《World journal of gastroenterology : WJG》2021,27(15):1616-1629
BACKGROUNDPancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of death among cancers, it is characterized by poor prognosis and strong chemoresistance. In the PDAC microenvironment, stromal cells release different extracellular components, including CXCL12. The CXCL12 is a chemokine promoting the communication between tumour and stromal cells. Six different splicing isoforms of CXCL12 are known (α, β, γ, δ, ε, θ) but their role in PDAC has not yet been characterized.AIMTo investigate the specific role of α, β, and γ CXCL12 isoforms in PDAC onset.METHODSWe used hTERT-HPNE E6/E7/KRasG12D (Human Pancreatic Nestin-Expressing) cell line as a pancreatic pre-tumour model and exposed it to the α, β, and γ CXCL12 isoforms. The altered expression profiles were assessed by microarray analyses and confirmed by Real-Time polymerase chain reaction. The functional enrichment analyses have been performed by Enrichr tool to highlight Gene Ontology enriched terms. In addition, wound healing assays have been carried out to assess the phenotypic changes, in terms of migration ability, induced by the α, β, and γ CXCL12 isoforms.RESULTSMicroarray analysis of hTERT-HPNE cells treated with the three different CXCL12 isoforms highlighted that the expression of only a few genes was altered. Moreover, the α and β isoforms showed an alteration in expression of different genes, whereas γ isoform affected the expression of genes also common with α and β isoforms. The β isoform altered the expression of genes mainly involved in cell cycle regulation. In addition, all isoforms affected the expression of genes associated to cell migration, adhesion and cytoskeleton. In vitro cell migration assay confirmed that CXCL12 enhanced the migration ability of hTERT-HPNE cells. Among the CXCL12 splicing isoforms, the γ isoform showed higher induction of migration than α and β isoforms.CONCLUSIONOur data suggests an involvement and different roles of CXCL12 isoforms in PDAC onset. However, more investigations are needed to confirm these preliminary observations. 相似文献
733.
734.
Ines Lahouel Randa Said El Mabrouk Rim Hadhri Monia Youssef Hichem Belhadjali Jameleddin Zili 《Clinical Case Reports》2022,10(2)
Since its outbreak in December 2019, a consistent number of case reports have been published describing a complex spectrum of skin manifestations associated with COVID‐19. We report a first observation of demodicosis of the scalp after a severe acute respiratory syndrome coronavirus 2 (SARS‐COV‐2) infection. 相似文献
735.
Viviana Lupo Maria Grazia Di Gregorio Gerarda Mastrogiorgio Monia Magliozzi Maria Eleonora Scapillati Vittorio Maglione Ester Romanelli Caterina Alegiani Cristina Haass Antonio Novelli 《American journal of medical genetics. Part A》2023,191(4):1111-1118
Multisystemic smooth muscle dysfunction syndrome (MSMDS, OMIM # 613834) is a rare autosomal dominant condition caused by pathogenetic variants of ACTA2 gene that result in impaired muscle contraction. MSMDS is characterized by an increased susceptibility to aneurismal dilatations and dissections, patent ductus arteriosus, early onset coronary artery disease, congenital mydriasis, chronic interstitial lung disease, hypoperistalsis, hydrops of gall bladder, and hypotonic bladder. Here, we report an early diagnosis of a MSMDS related to ACTA2 p.Arg179His (R179H) mutation in a newborn and performed a review of the literature. An early diagnosis of MSMDS is extremely important, because of the severe involvement of cardiovascular system in the MSMDS. Multidisciplinary care and surveillance and timely management of symptoms are important to reduce the risk of complications. 相似文献
736.
M. Makenzie Beaman Lucia Guidugli Monia Hammer Chelsea Barrows Anne Gregor Sangmoon Lee Kristen L. Deak Marie T. McDonald Courtney Jensen Maha S. Zaki Amira T. Masri Charlotte A. Hobbs Joseph G. Gleeson Jennifer L. Cohen 《American journal of medical genetics. Part A》2023,191(11):2757-2767
Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants exhibit phenotypes including microcephaly and craniofacial abnormalities, cardiac and genitourinary malformations, and abnormal neurologic activity. We report six individuals from three unrelated families harboring biallelic deleterious variants in CAPN15 with phenotypes overlapping those previously described for this disorder. Of the individuals affected, four demonstrate radiographic evidence of the classical triad of Dandy–Walker malformation including hypoplastic vermis, fourth ventricle enlargement, and torcular elevation. Cerebellar anomalies have not been previously reported in association with CAPN15-related disease. Here, we present three unrelated families with findings consistent with oculogastrointestinal neurodevelopmental syndrome and cerebellar pathology including Dandy–Walker malformation. To corroborate these novel clinical findings, we present supporting data from the mouse model suggesting an important role for this protein in normal cerebellar development. Our findings add six molecularly confirmed cases to the literature and additionally establish a new association of Dandy–Walker malformation with biallelic CAPN15 variants, thereby expanding the neurologic spectrum among patients affected by CAPN15-related disease. 相似文献
737.
Linda Manaa Monia Youssef Chokri Chouchne Nouha Ben abdejlil Hichem Belhadjali Sleh Chouchne Jameleddine Zili 《Clinical Case Reports》2022,10(3)
The aim of our clinical image was to emphasize the value of a careful skin examination in the diagnosis of early‐onset sarcoidosis in children. 相似文献