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51.
Masao Horie Keisuke Watanabe Asim K. Bepari Jun‐ichiro Nashimoto Kimi Araki Hiromi Sano Satomi Chiken Atsushi Nambu Katsuhiko Ono Kazuhiro Ikenaka Akiyoshi Kakita Ken‐ichi Yamamura Hirohide Takebayashi 《The European journal of neuroscience》2014,40(10):3458-3471
The Dystonin gene (Dst) is responsible for dystonia musculorum (dt), an inherited mouse model of hereditary neuropathy accompanied by progressive motor symptoms such as dystonia and cerebellar ataxia. Dst‐a isoforms, which contain actin‐binding domains, are predominantly expressed in the nervous system. Although sensory neuron degeneration in the peripheral nervous system during the early postnatal stage is a well‐recognised phenotype in dt, the histological characteristics and neuronal circuits in the central nervous system responsible for motor symptoms remain unclear. To analyse the causative neuronal networks and roles of Dst isoforms, we generated novel multipurpose Dst gene trap mice, in which actin‐binding domain‐containing isoforms are disrupted. Homozygous mice showed typical dt phenotypes with sensory degeneration and progressive motor symptoms. The gene trap allele (DstGt) encodes a mutant Dystonin‐LacZ fusion protein, which is detectable by X‐gal (5‐bromo‐4‐chloro‐3‐indolyl‐β‐D‐galactoside) staining. We observed wide expression of the actin‐binding domain‐containing Dystonin isoforms in the central nervous system (CNS) and peripheral nervous system. This raised the possibility that not only secondary neuronal defects in the CNS subsequent to peripheral sensory degeneration but also cell‐autonomous defects in the CNS contribute to the motor symptoms. Expression analysis of immediate early genes revealed decreased neuronal activity in the cerebellar‐thalamo‐striatal pathway in the homozygous brain, implying the involvement of this pathway in the dt phenotype. These novel DstGt mice showed that a loss‐of‐function mutation in the actin‐binding domain‐containing Dystonin isoforms led to typical dt phenotypes. Furthermore, this novel multipurpose DstGt allele offers a unique tool for analysing the causative neuronal networks involved in the dt phenotype. 相似文献
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Kausik Ganguly Tithi Dutta Arpan Saha Devroop Sarkar Asim Sil Kunal Ray Mainak Sengupta 《Annals of human genetics》2020,84(3):303-312
Oculocutaneous albinism (OCA) is a group of congenital autosomal recessive disorders with seven known subtypes (OCA1–OCA7) characterized by loss or absence of pigmentation in the skin, hair, and eyes. OCA1, caused by pathogenic variations in the tyrosinase (TYR) gene, has been documented to be the most prevalent subtype across the world including India. In the present study, we recruited 53 OCA-affected individuals from 45 unrelated families belonging to 20 different marriage groups/ethnicities of 15 different districts of West Bengal. We took a targeted sequencing-based approach to find the causal variations in the TYR gene. We report here identification of two novel potentially pathogenic variations [NM_000372.4:c.614C>T, NP_000363.1:p.(Pro205Leu), and NM_000372.4:c.1036+1=/G>T], one novel synonymous TYR variant [NM_000372.4:c.204=/A>G, NP_000363.1:p.(Gln68=)], two pathogenic variations documented for the first time in Indian OCA cases [NM_000372.4:c.1147G>A, NP_000363.1:p.(Asp383Asn), and NM_000372.4:c.585G>A, NP_000363.1:p.(Trp195*)], along with nine previously reported pathogenic variants in 36 out of 53 (∼68%) patients recruited. We report common haplotype backgrounds for the two most prevalent variations [NM_000372.4:c.124G>A, NM_000372.4:c.832C>T] in cases belonging to different marriage/ethnic groups, suggesting a possible founder effect. To our knowledge, this is the most comprehensive genetic study on OCA1 from India, firmly establishing OCA1 as the commonest form of albinism in this part of the world. 相似文献
54.
Matthew T. Whitehead Asim F. Choudhri John Grimm Marvin D. Nelson 《Pediatric radiology》2014,44(7):849-856
Background
Rhombencephalosynapsis is a rare genetic aberration characterized by variable vermian hypoplasia/aplasia in conjunction with united cerebellar hemispheres. Genetic defects in the isthmic organizer at the mesencephalic–metencephalic junction are presumably responsible for the associated aqueductal stenosis.Objective
We performed a retrospective review of 20 children with rhombencephalosynapsis to evaluate for and emphasize the association of aqueductal stenosis and hydrocephalus.Materials and methods
We retrospectively reviewed the MR and CT images of 20 children (0–11 years old) with rhombencephalosynapsis encountered at two academic children’s hospitals. Rhombencephalosynapsis spectrum severity was graded based on pre-existing literature. We analyzed examinations for ventriculomegaly and degree of aqueductal stenosis. The collicular distances were measured from the collicular apices. Imaging studies were also analyzed for malformations of cortical and cerebellar development.Results
Thirteen of the 20 children (65%) with rhombencephalosynapsis presented with clinical or imaging evidence of hydrocephalus and aqueductal stenosis, principally involving the caudal cerebral aqueduct. All children with aqueductal stenosis had collicular fusion. All six children with complete rhombencephalosynapsis had aqueductal stenosis. The cerebral aqueduct varied from normal to stenotic in children with incomplete rhombencephalosynapsis. Corpus callosum dysgenesis was present in four children.Conclusion
Aqueductal stenosis in the setting of rhombencephalosynapsis is an under-recognized cause of noncommunicating hydrocephalus. Our findings support the hypothesis that a defect involving the common gene(s) responsible for the differentiation and development of both the roof plate and midline cerebellar primordium at the mesencephalon/first rhombomere junction may be responsible for the association of aqueductal stenosis and rhombencephalosynapsis. 相似文献55.
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Five new isostructural lanthanide–organic complexes, [Ln2O2(OH)(HQXD)(H2QXD)2]·H2O (Ln = Eu 1, Tb 2, Sm 3 Dy 4 and Gd 5; H2QXD = quinoxaline-2,3(1H,4H)-dione), have been synthesized under hydrothermal conditions. These complexes are characterized by powder X-ray diffraction (PXRD), infrared spectroscopy (IR), elemental analysis (EA), thermogravimetric-differential thermal analysis (TG-DTA) and photo-luminescent spectroscopy. Single crystal X-ray diffraction analysis of complex 1 revealed that the structure featured in 1D chiral “Eu2O3” chains surrounded by coordinating organic ligands. These chains are interconnected via hydrogen bonding and offset π⋯π stacking interactions of the ligands to form the 3D supramolecular frameworks. The photo-luminescence studies for complexes 1–5 disclosed that the ligand (H2QXD) showed an antenna effect to transfer energy toward the lanthanide cations. The energy transfer mechanism investigations show that the energy transition from the triplet energy level (3ππ*) of ligand H2QXD to the Tb3+ cation is more effective than to the Eu3+, Sm3+ and Dy3+ ions; therefore it has been selected as a representative to examine the potential for sensing small molecules. Complex 2′, which was obtained by the heating treatment of 2 at 150 °C, displayed a high luminescence sensitivity towards small solvent molecules. Tertiary butanol (t-butanol) was found to be an excellent sensitizer, while tetrahydrofuran (THF) was a highly quenching species. Complex 2′ could regain a higher photo-luminescence intensity after treating for 5 cycles with t-butanol, revealing a prospect for reusability.A series of isostructural lanthanide–quinoxaline-2,3(1H,4H)-dione containing 1D chiral chains shows high sensing effect toward the small solvent molecules, in which tertiary butanol was an excellent sensitizer, while tetrahydrofuran was a highly quenching species. 相似文献
57.
Raya Saab MD Anas Obeid MD Fatiha Gachi MD Houda Boudiaf MD Lilit Sargsyan MD Khulood Al-Saad MD Tamar Javakhadze MD Azim Mehrvar MD Sawsan Sati Abbas MD Yasir Saadoon Abed Al-Agele MD Salma Al-Haddad MD Mouroge Hashim Al Ani MD Suleiman Al-Sweedan MD Amani Al Kofide MD Wasil Jastaniah MD Nisreen Khalifa MD Elie Bechara MD Malek Baassiri MD Peter Noun MD Jamila El-Houdzi MD Mohammed Khattab MD Krishna Sagar Sharma MD Yasser Wali MD Naureen Mushtaq MD Aliya Batool MD Mahwish Faizan MD Muhammad Rafie Raza MD Mohammad Najajreh MD Mohammed Awad Mohammed Abdallah MD Ghada Sousan MD Khaled M. Ghanem MD Ulker Kocak MD Tezer Kutluk MD Hacı Ahmet Demir MD Hamoud Hodeish MD Samar Muwakkit MD Asim Belgaumi MD Abdul-Hakim Al-Rawas MD Sima Jeha MD 《Cancer》2020,126(18):4235-4245
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High throughput tissue microarray analysis of FHIT expression in diffuse large cell B-cell lymphoma from Saudi Arabia. 总被引:1,自引:0,他引:1
Khawla Al Kuraya Abdul Khalid Siraj Prashant Bavi Naif Al-Jomah Hassan El-Solh Adnan Ezzat Fouad Al-Dayel Asim Belgaumi Amani Al-Kofide Rajeh Sabbah Salwa Sheikh Samir Amr Ronald Simon Guido Sauter 《Modern pathology》2006,19(8):1124-1129
Recent studies have suggested a potential prognostic role of alterations of the fragile histidine triad (FHIT) gene in diffuse large B-cell lymphoma. To evaluate possible mechanisms of FHIT inactivation and to further clarify its potential prognostic relevance, we analyzed a set of 114 diffuse large B-cell lymphoma with clinical follow-up information. Tissue microarrays were analyzed by immunohistochemistry for protein expression, and corresponding DNA samples were analyzed for FHIT promotor hypermethlyation. Reduced or absent FHIT expression was found in 75 of 114 diffuse large B-cell lymphoma (66%), but was unrelated to clinical tumor stage or patient prognosis. FHIT promotor hypermethylation was observed in 29 of 93 (23%) interpretable diffuse large B-cell lymphoma. Hypermethylation was not significantly correlated to protein expression loss, which could be explained by competing mechanisms for FHIT inactivation in a substantial fraction of non FHIT hypermethylated diffuse large B-cell lymphoma. Hypermethylation was significantly associated with poor prognosis of diffuse large B-cell lymphoma patients and predominantly seen in nongerminal center diffuse large B-cell lymphoma (27%), but less frequent (13%) in germinal center diffuse large B-cell lymphoma. In summary, these data suggest that promotor hypermethylation is responsible for reduced FHIT expression in a substantial subset of diffuse large B-cell lymphoma, which is primarily composed of nongerminal center subtype with poor patient prognosis. 相似文献
60.