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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants 下载免费PDF全文
Sara Gutiérrez‐Enríquez Sandra Bonache Gorka Ruíz de Garibay Ana Osorio Marta Santamariña Teresa Ramón y Cajal Eva Esteban‐Cardeñosa Anna Tenés Kira Yanowsky Alicia Barroso Gemma Montalban Ana Blanco Mònica Cornet Neus Gadea Mar Infante Trinidad Caldés Eduardo Díaz‐Rubio Judith Balmaña Adriana Lasa Ana Vega Javier Benítez Miguel de la Hoya Orland Diez 《International journal of cancer. Journal international du cancer》2014,134(9):2088-2097
RAD51D mutations have been recently identified in breast (BC) and ovarian cancer (OC) families. Although an etiological role in OC appears to be present, the association of RAD51D mutations and BC risk is more unclear. We aimed to determine the prevalence of germline RAD51D mutations in Spanish BC/OC families negative for BRCA1/BRCA2 mutations. We analyzed 842 index patients: 491 from BC/OC families, 171 BC families, 51 OC families and 129 patients without family history but with early‐onset BC or OC or metachronous BC and OC. Mutation detection was performed with high‐resolution melting, denaturing high‐performance liquid chromatography or Sanger sequencing. Three mutations were found in four families with BC and OC cases (0.82%). Two were novel: c.1A>T (p.Met1?) and c.667+2_667+23del, leading to the exon 7 skipping and one previously described: c.674C>T (p.Arg232*). All were present in BC/OC families with only one OC. The c.667+2_667+23del cosegregated in the family with one early‐onset BC and two bilateral BC cases. We also identified the c.629C>T (p.Ala210Val) variant, which was predicted in silico to be potentially pathogenic. About 1% of the BC and OC Spanish families negative for BRCA1/BRCA2 are carriers of RAD51D mutations. The presence of several BC mutation carriers, albeit in the context of familial OC, suggests an increased risk for BC, which should be taken into account in the follow‐up and early detection measures. RAD51D testing should be considered in clinical setting for families with BC and OC, irrespective of the number of OC cases in the family. 相似文献
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Nicolas Pons Gorka Fernández-Eulate Antoine Pegat Marie Théaudin Régis Guieu Paolo Ripellino Manon Devedjian Patrick Mace Marion Masingue Sarah Léonard-Louis Philipe Petiot Pauline Roche Emilien Bernard Françoise Bouhour Jean-Marc Good Annie Verschueren Aude-Marie Grapperon Emmanuelle Salort Anaïs Grosset Jean-Baptiste Chanson Aleksandra Nadaj-Pakleza Anne-Laure Bédat-Millet Ariane Choumert Anne Barnier Ghassen Hamdi Gaëtan Lesca Fabienne Prieur Arnaud Bruneel Philippe Latour Tanya Stojkovic Shahram Attarian Nathalie Bonello-Palot 《European journal of neurology》2023,30(7):2001-2011
Background and purpose
Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants.Methods
Patients followed at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence SORD, and mass spectrometry was used to measure patients' serum sorbitol.Results
Thirty patients had SORD peripheral neuropathy associating LL weakness with muscular atrophy, foot deformities (87%), and sometimes proximal LL weakness (20%) or distal upper limb weakness (50%). Eighteen had dHMN, nine had CMT2, and three had intermediate CMT. Most of them had a mild or moderate disease severity. Sixteen carried a homozygous c.757delG (p.Ala253Glnfs*27) variant, and 11 carried compound heterozygous variants, among which four variants were not yet reported: c.403C > G, c.379G > A, c.68_100 + 1dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C > A variant, and one patient carried a new homozygous c.786 + 5G > A variant. Mean serum sorbitol levels were 17.01 mg/L ± 8.9 SD for patients carrying SORD variants.Conclusions
This SORD-inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22-fold) compared to controls, with both diagnostic and potential therapeutic implications. 相似文献436.
Gorka Ibarra Carlota Gonzalez-Pozega Manuel Cuervas-Mons Andres Rivera Borja Fernandez-Ibarburu Angela Garcia-Ruano 《The Journal of foot and ankle surgery》2021,60(4):839-844
Soft tissue defects of the distal third of the leg and ankle, which frequently expose tendon, bone or osteosynthesis material, are difficult to cover and pose a major challenge to the plastic surgeon. Traditional reconstructive options for this region usually require complex flaps which made them unsuitable for elderly patients or those with multiple comorbidities. We hereby present the reverse dermis flap as an easy and reliable choice to cover this type of wounds and refer our experience in 9 cases in which clinical, operative, and follow-up data were recorded. Of the 9 flaps performed, 8 survived completely and 1 presented a partial flap necrosis, requiring additional surgery. No other operative procedure was required. In conclusion, the reversed dermis flap is a simple, quick, noninvasive, and safe technique for coverage of noble structures such as tendon or bone in the distal third of the leg that every plastic surgeon should incorporate in his surgical armamentary. 相似文献
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