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91.
INTRODUCTION
The management of Hirschsprung’s disease continues to evolve. This questionnaire survey aimed to determine current surgical management strategies for Hirschsprung’s disease in Britain.SUBJECTS AND METHODS
The survey was sent electronically to all British paediatric surgeons. Initial questions explored individual experience and regional service provision. Additional questions, reserved for surgeons who perform definitive Hirschsprung’s disease surgery, addressed specific clinical scenarios.RESULTS
Surveys were sent to 142 surgeons yielding 85 responses. After exclusions, 64 surveys from 21 centres were analysed. Forty-seven respondents worked in centres with designated ‘Hirschsprung’s disease surgeons’. Forty respondents perform definitive Hirschsprung’s disease surgery. In a well neonate with left-sided Hirschsprung’s disease, 34 of 40 surgeons favour primary pull-through following bowel decompression with rectal washouts; 35 of 40 surgeons aim to perform definitive surgery at less than 3 months of age, with 17 favouring laparoscopic-assisted Soave–Boley and 15 favouring an open Duhamel pull-through. Of the 40 surgeons, 36 use a staged approach to right-sided/total colonic Hirschsprung’s disease with 23 favouring a Duhamel or Long Duhamel pull-through.CONCLUSIONS
The primary pull-through, using an open Duhamel or laparoscopic-assisted Soave–Boley technique, during the first 3 months of life, has become the operative strategy of choice in rectosigmoid Hirschsprung’s disease in Britain. Marked variation in practice remains for right-sided Hirschsprung’s disease. 相似文献92.
Susanne Darr‐Foit Peter Elsner Jrg Tittelbach 《Journal der Deutschen Dermatologischen Gesellschaft》2019,17(3):261-265
The term “deprescribing” refers to the systematic process of identifying, tapering, and discontinuing individually ineffective and/or potentially harmful drugs. Considering various aspects, the present review addresses the concept of “deprescribing” in the context of recommendations for use of systemic drugs contained in current dermatological guidelines. Overall, 16 sets of guidelines developed under the auspices of the German Society of Dermatology (DDG) were reviewed. Our analysis shows that many guidelines contain no or insufficient information in terms of deprescribing systemic drugs. We therefore propose that future guidelines and guideline updates should include standardized recommendations for discontinuation or dose adjustment of systemic therapies. 相似文献
93.
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias 总被引:9,自引:0,他引:9
Wollnik B; Schroeder BC; Kubisch C; Esperer HD; Wieacker P; Jentsch TJ 《Human molecular genetics》1997,6(11):1943-1949
The inherited long QT syndrome (LQTS), characterized by a prolonged QT
interval in the electrocardiogram and cardiac arrhythmia, is caused by
mutations in at least four different genes, three of which have been
identified and encode cardiac ion channels. The most common form of LQTS is
due to mutations in the potassium channel gene KVLQT1, but their effects on
associated currents are still unknown. Different mutations in KVLQT1 cause
the dominant Romano-Ward (RW) syndrome and the recessive Jervell and
Lange-Nielsen (JLN) syndrome, which, in addition to cardiac abnormalities,
includes congenital deafness. Co- expression of KvLQT1 with the IsK protein
elicits slowly activating potassium currents resembling the cardiac Iks
current. We now show that IsK not only changes the kinetics of KvLQT1
currents, but also its ion selectivity. Several mutations found in RW,
including a novel mutation (D222N) in the putative channel pore, abolish
channel activity and reduce the activity of wild-type KvLQT1 by a
dominant-negative mechanism. By contrast, a JLN mutation truncating the
carboxyterminus of the KvLQT1 channel protein abolishes channel function
without having a dominant-negative effect. This fully explains the
different patterns of inheritance. Further, we identified a novel splice
variant of the KVLQT1 gene, but could not achieve functional expression of
this nor of a previously described heart-specific isoform.
相似文献
94.
95.
低聚果糖口服补液盐的试制 总被引:8,自引:0,他引:8
目的:改良口服补液盐(ORS),使其具有微生态调节作用、并与肠道内渗透压相似。方法:将氯化钠2.6g、氯化钾1.5g、枸橼酸钠2.9g、低聚果糖(FOS)20g和葡萄糖10g等混合后低聚果糖口服液盐(FOS-ORS)。密封包装,使用时加开水1000ml冲服。可采用高效液相色谱法测定FOS的含量。结果:FOS-ORS为白色散剂,加水后为无色透明液体,味甜中微咸,其浓度(mmol/L)为钠75、钾20 相似文献
96.
M. Louise Markert Bruce D. Finkel Tanya M. McLaughlin TJ Watson Harold R. Collard Connette P. McMahon Lucy G. Andrews Michael J. Barrett Frances E. Ward 《Human mutation》1997,9(2):118-121
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A 174P and G190V, a single codon deletion, ΔI129, and a point mutation in intron 3 which leads to aberrant splicing and creation of a premature stop codon in exon 4 (286 -18G→A). Of the previously reported mutations, E89K was found in one additional patient, and R234P was found in 3 unrelated patients, making R234P the most common mutation reported to date in this disease. Hum Mutat 9:118–121, 1997. © 1997 Wiley-Liss, Inc. 相似文献
97.
98.
Position paper: Telemedicine in occupational dermatology – current status and perspectives
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Peter Elsner Andrea Bauer Thomas Ludwig Diepgen Hans Drexler Manigé Fartasch Swen Malte John Sibylle Schliemann Wolfgang Wehrmann Jörg Tittelbach 《Journal der Deutschen Dermatologischen Gesellschaft》2018,16(8):969-974
Teledermatology is the use of telecommunication technologies to exchange medical information for diagnosis, consultation, treatment and teaching in dermatology. While its use has been evaluated in a wide range of dermatological diagnoses, only few studies exist on its validity, diagnostic precision, feasibility, and cost‐effectiveness in occupational dermatology. However, these studies show a considerable potential for diagnosis, prevention, treatment support and follow‐up of patients with occupational skin diseases. Asynchronous (store and forward; SAF) or synchronous dermatology teleconsults could assist occupational medicine specialists not only in occupational preventive care, but also in the context of skin cancer screening in outdoor workers. Thus, teledermatology might contribute to earlier prevention and notification of occupational skin diseases. Modern smartphone apps with artificial intelligence technologies may also facilitate self‐monitoring in employees working in high‐risk jobs. 相似文献
99.
100.
U.-C. Hipler B. Hochheim B. Knöll J. Tittelbach G. Schreiber 《Systems biology in reproductive medicine》2013,59(3):217-222
This study was conducted to evaluate the expression of transforming growth factor- &;#103 1 (TGF- &;#103 1) in testis with aging and progress of diabetes mellitus (DM) and correlated this with testicular function. Zucker diabetic fatty rats (15, 40, and 75 weeks old) were used as models for non-insulin-dependent DM. The controls were age-matched nondiabetic Zucker fatty rats. Serum testosterone levels and daily sperm production were evaluated. Testicular tissue was immunostained with anti-TGF- &;#103 1. Labeled cells were assessed and the staining intensity was estimated. The 15-week control and diabetic animals showed the lowest levels of staining intensity but this started to increase significantly in the older animals of both categories. However, the diabetic animals had significantly deeper intensities relative to controls at the different age groups. These changes in TGF- &;#103 1 expression were negatively correlated with both testosterone and sperm production. Therefore, aging and DM enhanced the expression of TGF- &;#103 1 in testis, and this was parallel with progress of both conditions, although DM seems to be predominant. These alterations in TGF- &;#103 1 expression may be related to changes in testicular function associated with both conditions. 相似文献