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391.
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2 总被引:19,自引:0,他引:19
Smith FJ; Jonkman MF; van Goor H; Coleman CM; Covello SP; Uitto J; McLean WH 《Human molecular genetics》1998,7(7):1143-1148
Type I and type II keratins form the heteropolymeric intermediate filament
cytoskeleton, which is the main stress-bearing structure within epithelial
cells. Pachyonychia congenita (PC) is a group of autosomal dominant
disorders whose most prominent phenotype is hypertrophic nail dystrophy
accompanied by other features of ectodermal dysplasia. It has been shown
previously that mutations in either K16 or K6a, which form a keratin
expression pair, produce the PC-1 variant (MIM 184510). Mutations in K17
alone, an unpaired accessory keratin, result in the PC-2 phenotype (MIM
184500). Here, we describe a family with PC-2 in which the K17 locus on 17q
was excluded and linkage to the type II keratin locus on 12q was obtained
(Z max 3.31 at straight theta = 0). Mutation analysis of candidate keratins
revealed the first reported missense mutation in K6b, implying that this
keratin is the previously unknown expression partner of K17, analogous to
the K6a/K16 pair. Co-expression of these genes was confirmed by in situ
hybridization and immunohistochemical staining. These results reveal the
hitherto unknown role of the K6b isoform in epithelial biology, as well as
genetic heterogeneity in PC-2.
相似文献
392.
Veld PA; Weber RF; Los FJ; den Hollander N; Dhont M; Pieters MH; Van Hemel JO 《Human reproduction (Oxford, England)》1997,12(8):1642-1644
Two case histories are presented documenting structural chromosome
abnormalities in infertile males. The abnormalities were detected only
after application of intracytoplasmic sperm injection (ICSI) was repeatedly
unsuccessful or resulted in an abnormal pregnancy. A mosaic Robertsonian
translocation 45,XY,der(13;13)(q10; q10)/46,XY,t(13;13)(p10;p10),
der(13p;13p) incompatible with normal offspring was found in a male with
extreme oligozoospermia after three subsequent ICSI treatments were
unsuccessful and one had resulted in a spontaneous abortion. A second case
involved a Robertsonian translocation 45,XY,der(13;14)(q10;q10) which was
detected in a male with extreme oligozoospermia after ultrasound
abnormalities were found in an ICSI-induced twin pregnancy. Amniocentesis
showed an unbalanced 46,XY,+13,der(13;14)(q10;q10) karyotype in one twin
and a Robertsonian 45,XX,der(13;14)(q10;q10) karyotype in the other twin.
Chromosome analysis of males with abnormal sperm characteristics is advised
prior to ICSI.
相似文献
393.
394.
Roland FJ Popp Stefanie Maier Siegfried Rothe Jürgen Zulley Tatjana Cr?nlein Thomas C Wetter Rainer Rupprecht G?ran Hajak 《Noise & health》2015,17(79):387-393
This study aimed to evaluate the impact of traffic noise along the motorway on sleep quality, sleepiness, and vigilant attention in long-haul truck drivers. This was a randomized, crossover, within-subject controlled study. Healthy long-haul truck drivers spent 6 consecutive nights in a real truck berth with full sleep laboratory equipment. During 3 nights, subjects were exposed to replayed traffic noise alongside motorways, whereas the other 3 nights were without traffic noise. Polysomnography was recorded during the nights and numerous sleepiness tests and vigilance examinations were performed during the following standardized working day. Outcome measures were compared between noisy and silent nights using the paired Wilcoxon test. Ten healthy long-haul truck drivers with a mean age of 36.3 ± 7.3 years completed the study as planned. On noisy nights, subjects had greater latencies to the rapid eye movement (REM) phase (90 ± 32 min vs 69 ± 16 min, P = 0.074) and higher percentages of sleep stage 1 (13.7 ± 5.5% vs 11.2 ± 4.4%; P = 0.059). Subjects also rated their sleep quality as having been better during nights without noise (28.1 ± 3.7 vs 30.3 ± 6.2, P = 0.092). The impact of these differences on daytime sleepiness and vigilance was rather low; however, mean Karolinska Sleepiness Scale (KSS) scores measured during the course of the following day were higher on six out of eight occasions after noisy nights. The effects of overnight traffic noise on sleep quality are detectable but unlikely to have any major impact on the vigilant attention and driving performance of long haul-truck drivers with low nocturnal noise sensitivity. This might not be true for subgroups prone to sleeping disorders. 相似文献
395.
396.
OJ Old SR Kulkarni TJ Hardy FJ Slim LG Emerson RA Bulbulia MR Whyman KR Poskitt 《Annals of the Royal College of Surgeons of England》2015,97(2):120-124
Introduction
Totally extra-peritoneal (TEP) inguinal hernia repair allows identification and repair of incidental non-inguinal groin hernias. We assessed the prevalence of incidental hernias during TEP inguinal hernia repair and identified the risk factors for incidental hernias.Materials and Methods
Consecutive patients undergoing TEP repair from May 2005 to November 2012 were the study cohort. Inspection for ipsilateral femoral, obturator and rarer varieties of hernia was undertaken during TEP repair. Patient characteristics and operative findings were recorded on a prospectively collected database.Results
A total of 1,532 TEP repairs were undertaken in 1,196 patients. Ninety-three patients were excluded due to incomplete data, leaving 1,103 patients and 1,404 hernias for analyses (1,380 male; 802 unilateral and 301 bilateral repairs; median age, 59 years). Among the 37 incidental hernias identified (2.6% of cases), the most common type of incidental hernia was femoral (n=32, 2.3%) followed by obturator (n=2, 0.1%). Increasing age was associated with an increased risk of incidental hernia, with a significant linear trend (p<0.01). The risk for patients >60 years of age was 4.0% vs 1.4% for those aged <60 years (p<0.01). Incidental hernias were found in 29.2% of females vs 2.2% of males, (p<0.0001). Risk of incidental hernia in those with a recurrent inguinal hernia was 3.0% vs 2.6% for primary repair (p=0.79).Conclusions
Incidental hernias during TEP inguinal hernia repair were found in 2.6% of cases and, though infrequent, could cause complications if left untreated. The risk of incidental hernia increased with age and was significantly higher in patients aged >60 years and in females. 相似文献397.
Age-specific regulation of clotting factor IX gene expression in normal and transgenic mice 总被引:3,自引:1,他引:3
Boland EJ; Liu YC; Walter CA; Herbert DC; Weaker FJ; Odom MW; Jagadeeswaran P 《Blood》1995,86(6):2198-2205
Factor IX (FIX), a circulating serine protease that serves as an essential component of the blood coagulation pathway, has been shown to increase with age in humans. We show here that murine FIX mRNA and activity levels also increase with age. Furthermore, one form of hemophilia B, hemophilia B Leyden, which is caused by mutations within the promoter region of the FIX gene, has a distinct age-dependent phenotype. To determine the source of the age-related increases in FIX gene expression, we have analyzed the regulation of the normal FIX gene promoter and FIX Leyden gene promoter with the +13 mutation during aging by generating transgenic mice that contain the -189 to +21 bp promoter segment ligated to a chloramphenicol acetyltransferase reporter gene. We have established that the normal FIX promoter and the Leyden promoter transgenes are expressed in a tissue-specific manner in vivo. The normal FIX promoter transgene does not show any differences in the pattern of expression with age or sex of the organism, whereas the Leyden promoter transgene showed age-dependent male-specific expression. This is the first demonstration of the FIX Leyden phenotype in a transgenic mouse model. 相似文献
398.
Hulscher JB Haringsma J Benraadt J Offerhaus GJ ten Kate FJ Baak JP Tytgat GN van Lanschot JJ ;Barrett Advisory Committee 《The Netherlands journal of medicine》2001,58(1):3-8
BACKGROUND: Treatment and follow-up policy for Barrett's oesophagus are dependent on the grade of dysplasia. However, sampling error of random biopsy protocols and subjectivity of pathological grading may hamper endoscopic surveillance. METHODS: The Amsterdam Comprehensive Cancer Center Barrett Advisory Committee (BAC) is a regional multidisciplinary consultative working-group, offering revision of pathology, revision of pathology plus additional endoscopic diagnostics, or referral for treatment. RESULTS: Between July 1998 and July 1999 30 patients were referred to the B.A.C for advice; eighteen patients were referred because of suspicion of high grade dysplasia. Reassessment of biopsies, including additional quantitative pathology, with or without additional endoscopic diagnostics, led to adjustment of the grading of dysplasia in 15 patients (50%). A suspicion of low grade dysplasia was rejected in nine out of ten cases. Adjustment of the original diagnosis often influenced further therapy or follow-up. CONCLUSIONS: reassessment of conventional pathology, quantitative pathology, and additional diagnostic procedures might improve the accuracy of diagnosis and staging of malignant degeneration of Barrett's oesophagus, although experience is still limited. The complexity of the management of these patients demands a specialised multidisciplinary approach. A Barrett Advisory Committee can offer valuable contributions to the treatment of patients with Barrett's oesophagus. 相似文献
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400.