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排序方式: 共有442条查询结果,搜索用时 375 毫秒
81.
82.
Parsons DW; McAndrew PE; Monani UR; Mendell JR; Burghes AH; Prior TW 《Human molecular genetics》1996,5(11):1727-1732
The gene for autosomal recessive spinal muscular atrophy (SMA) has been
mapped to 5q12 in a region that contains repeated markers and genes. Three
cDNAs that detect deletions in SMA patients have been reported. One of
these, the survival motor neuron (SMN) cDNA, is encoded by two genes (SMNT
and SMNC) which are distinguished by base changes in exons 7 and 8. Exon 7
of the SMNT gene is not detectable in approximately 95% of SMA cases, due
either to deletion or sequence conversion. There is limited information on
the mutations in SMA patients that have detectable SMNT, these are critical
for confirmation of SMNT as the SMA gene. Using SSCP analysis of the SMN
exons we screened our SMA patients that possess at least one intact SMNT
allele for mutations in SMNT. We identified one type I SMA patient with an
11 bp duplication in exon 6 which causes a frameshift and premature
termination of the deduced SMNT protein. Dosage and SSCP analysis of SMNT
in this family indicated that the father contributed a SMNT-deleted allele
to the affected child whereas the mother passed on the 11 bp exon 6
duplication SMNT allele. Analysis of RNA by RT-PCR conclusively
demonstrated that the 11 bp duplication is associated with the SMNT locus
and not SMNC. This mutation provides strong support for SMN as the
SMA-determining gene and indicates that disruption of SMNT on its own is
sufficient to produce a severe type I SMA phenotype.
相似文献
83.
Heterogeneity of autosomal dominant osteopetrosis 总被引:4,自引:0,他引:4
A review of the radiographs of 26 patients with autosomal dominant osteopetrosis disclosed two distinct and strictly family-related radiographic types. Both types had universal osteosclerosis. In type 1 the most striking finding was pronounced sclerosis of the cranial vault while the spine was almost unaffected. In type 2 the sclerosis of the skull was most pronounced at the base, the vertebrae always had end-plate thickening, and in the pelvis the iliac wings contained convex arcs of sclerotic bone. Age and sex distribution did not differ between the types. Autosomal dominant osteopetrosis may be a heterogeneous group of inherited bone disorders. 相似文献
84.
Hitoshi Fukuda Alexander I. Evins Justin C. Burrell Koichi Iwasaki Philip E. Stieg Antonio Bernardo 《Skull base》2014,75(2):125-132
Objective To describe the microanatomy of the meningo-orbital band (MOB) and its associated membranes, and propose a stepwise method for their detachment while minimizing potential complications.
Design Cadaveric and prospective clinical.
Setting Microneurosurgery Skull Base Laboratory, Weill Cornell Medical College (New York, NY) and Shiroyama Hospital (Osaka, Japan).
Participants Five preserved cadaveric heads (10 sides) and five patients requiring surgical detachment of the MOB in 2012.
Results MOB detachment and subsequent extradural anterior clinoidectomies were successfully performed on five clinical cases. Detachment of the MOB was accomplished using a four-step dissection based on the structure''s detailed microanatomy and included (1) partial removal of the lateral wall of the superior orbital fissure, (2) incising of the lateral periosteal dura of the superior orbital fissure, (3) peeling off the dura propria of the temporal lobe from the inner cavernous membrane, and (4) fully detaching the exposed MOB from the periorbita.
Conclusion Understanding the complex microanatomy of these structures enabled a safe and effective stepwise detachment of the MOB. We recommend that surgeons possess sufficient anatomical knowledge before surgically manipulating this structure. 相似文献
85.
86.
Ultrastructural analysis of murine megakaryocyte maturation in vitro: comparison of big-cell and heterogeneous megakaryocyte colonies 总被引:1,自引:0,他引:1
Two morphologically distinct types of murine megakaryocyte (MK) colonies are present after three to seven days in soft agar culture: (a) "big-cell" colonies composed of ten to 30 large, mature-appearing megakaryocytes and (b) "heterogeneous" colonies consisting of approximately 100 or more cells at various stages of differentiation. Cytochemical and immunocytochemical techniques were used to study MK maturation in colonies as well as normal mouse bone marrow. Acetylcholinesterase (AChE), a specific marker for murine platelets and MK, was found in the perinuclear cisterna, endoplasmic reticulum, and occasionally, Golgi cisternae of MK in three-day big-cell colonies and immature bone marrow MK. MK in seven-day big-cell colonies and mature bone marrow MK showed additional reaction sites in the demarcation membrane system and occasional granules. In seven-day heterogeneous colonies, small cells resembled immature bone marrow MK with respect to AChE localization, whereas large cells corresponded to mature bone marrow MK. With immunogold procedures at the ultrastructural level, polyclonal antibodies against human platelet membrane glycoprotein IIIa and antimouse platelet antiserum labeled bone marrow MK and all MK from colonies grown in soft agar cultures for three to seven days. Granulocytes and macrophages in both bone marrow and soft agar cultures were negative for AChE and these immunocytochemical markers. These data indicate that the pattern of expression of AChE during maturation of MK is similar in vivo and in vitro and demonstrate, when using this marker at the fine-structural level, that a greater range of MK maturational stages is present in heterogeneous colonies than is observed in MK in big-cell colonies. Furthermore, we have confirmed that small cells in heterogeneous colonies are MK and that these colonies are composed solely of MK and their precursors. 相似文献
87.
88.
Human herpesvirus 6: infection and disease following autologous and allogeneic bone marrow transplantation 总被引:3,自引:0,他引:3
Kadakia MP; Rybka WB; Stewart JA; Patton JL; Stamey FR; Elsawy M; Pellett PE; Armstrong JA 《Blood》1996,87(12):5341-5354
Human herpesvirus 6 activity (HHV-6) was studied in 15 allogeneic and 11 autologous marrow transplantation patients. After transplantation, HHV-6 was isolated from the peripheral blood mononuclear cells of 12 of 26 patients (6 allogeneic and 6 autologous). All isolates were variant B. Eleven of 26 and 12 of 19 patients showed salivary shedding of HHV-6 DNA before and after transplantation, respectively. The antibody titer increased in 7 of 26 patients. Thus, 23 of 26 patients showed evidence of active HHV-6 infection either by virus isolation, salivary shedding, or increases in antibody titers. The fraction of saliva specimens positive in 19 patients was negatively associated with their antibody titers (P= .005). The proportion of cultures positive increased after transplantation (P = .007). Sinusitis was associated with HHV-6 isolation in autologous recipients (P= .002). In allogeneic patients, active human cytomegalovirus infection was associated with HHV-6 isolation (P = .04). No association was observed between HHV-6 infection and GVHD, pneumonia, delay in engraftment, or marrow suppression. Of the 120 clinical events analyzed in 26 patients, HHV-6 was defined as a probable cause of 16 events in 9 patients based on the propinquity of HHV-6 activity and the clinical event plus the absence of other identified causes of the event. 相似文献
89.
Human granulocytes generated in continuous bone marrow culture are physiologically normal 总被引:1,自引:0,他引:1
A long-term bone marrow culture system has been derived for maintenance and proliferation of human hemopoietic stem cells and granulocytes in vitro for up to 20 wk. The granulocytes generated in these cultures at 8 wk were comparable to fresh human peripheral blood granulocytes in physiologic properties, including phagocytosis, degranulation, respiratory burst, and bacterial killing: individual granulocytes generated up to 20 wk in several cultures demonstrated normal superoxide-generating capacity by NBT dye reduction slide test. Thus, human granulocytes generated in continuous marrow culture retain many biologic functions associated with bacterocidal capacity in vivo and indicate that this system should be of value in studies of disorders of granulocyte differentiation. 相似文献
90.
Illness Perceptions Explain the Variance in Functional Disability,but Not Habitual Physical Activity,in Patients With Chronic Low Back Pain: A Cross‐Sectional Study
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