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11.
Martin RM Lin CJ Costa EM de Oliveira ML Carrilho A Villar H Longui CA Mendonca BB 《The Journal of clinical endocrinology and metabolism》2003,88(12):5739-5746
P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production of sex hormones. We performed a clinical, hormonal, and molecular study of 11 patients from 6 Brazilian families with the combined 17alpha-hydroxylase/17,20-lyase deficiency phenotype. All patients had elevated basal serum levels of progesterone (1.8-38 ng/ml; 0.57-12 pmol/liter) and suppressed plasma renin activity. CYP17 genotyping identified 5 missense mutations. The compound heterozygous mutation R362C/W406R was found in 1 family, whereas the homozygous mutations R96W, Y329D, and P428L were seen in the other 5 families. The R96W mutation has been described as the cause of p450c17 deficiency in Caucasian patients. The other mutations were not found in 50 normal subjects screened by allele-specific oligonucleotide hybridization (Y329D, R362C, and W406R) or digestion with HphI (P428L) and were recently found in other Brazilian patients. Therefore, we elucidated the genotype of 11 individuals with p450c17 deficiency and concluded that basal progesterone measurement is a useful marker of p450c17 deficiency and that its use should reduce the misdiagnosis of this deficiency in patients presenting with male pseudohermaphroditism, primary or secondary amenorrhea, and mineralocorticoid excess syndrome. 相似文献
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Facial fractures with occlusal derangement describe any fracture which directly or indirectly affects the occlusal relationship. Such fractures include dento-alveolar fractures in the maxilla and mandible, midface fractures – Le fort I, II, III and mandible fractures of the symphysis, parasymphysis, body, angle, and condyle. In some of these fractures, the fracture line runs through the dento-alveolar component whereas in others the fracture line is remote from the occlusal plane nevertheless altering the occlusion. The complications that could ensue from the management of maxillofacial fractures are predominantly iatrogenic, and therefore can be avoided if adequate care is exercised by the operating surgeon. This paper does not emphasize on complications arising from any particular technique in the management of maxillofacial fractures but rather discusses complications in general, irrespective of the technique used.KEY WORDS: Complication, fracture, malocclusion, mandible, midface fracture 相似文献
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Report of the first example of pure anti-Lua associated with hemolytic disease of the newborn. Of special interest is the fact that this serum demonstrated a marked prozone reaction in saline, papain and indirect Coombs titrations, and is the first anti-Lua serum to react well by the indirect Coombs technic. 相似文献
16.
Billerbeck AE Mendonca BB Pinto EM Madureira G Arnhold IJ Bachega TA 《The Journal of clinical endocrinology and metabolism》2002,87(9):4314-4317
Three different new mutations were found after CYP21 gene sequencing in three unrelated patients with the classical form of the 21-hydroxylase deficiency. These mutations were also screened in their affected relatives. In one patient and her brother, both affected with the simple virilizing form and in their aunt, with the nonclassical form, an AG>GG transition was found in the acceptor site of intron 2. In another patient with the salt wasting form, we found a 1003 1004 insA, in exon 4, that altered the reading frame and created a stop codon in codon 297. In the third patient and his sister, we found a C>T transition in codon 408. This transition led to the substitution of arginine by cysteine (R408C) in a conserved region where arginine is conserved in at least four different species. These siblings with the R408C mutation, both affected with the salt wasting form, have the IVS2-13A/C>G mutation in the other allele, suggesting that the R408C should lead to complete impairment of enzymatic activity. To rule out the possibility of polymorphism, R408C was screened through allele specific PCR, and it was not found in 100 normal alleles. The screening of these three new mutations by allele-specific PCR or enzymatic restriction in 212 CAH patients disclosed their presence in 2.3% (9/387) of the alleles. All three new mutations were found in compound heterozygous state with previously known mutations. Microsatellite studies, using markers flanking CYP21 gene, revealed that each new mutation presents the same haplotype, suggesting a gene founder effect, similar to what was previously observed with the G424S mutation also described in our population. Although microconversion events are the main cause of mutations in the CYP21 gene, random mutations with a common origin can also be the cause of 21-hydroxylase deficiency. 相似文献
17.
Ferreira LV Souza SC Montenegro LR Malaquias AC Arnhold IJ Mendonca BB Jorge AA 《Clinical endocrinology》2008,69(3):426-431
Background Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS.
Objective To evaluate the presence of mutations in PTPN11 in ISS children who presented NS-related signs and in well-characterized NS patients.
Patients and methods We studied 50 ISS children who presented at least two NS-associated signs but did not fulfil the criteria for NS diagnosis. Forty-nine NS patients diagnosed by the criteria of van der Burgt et al .3 were used to assess the adequacy of these criteria to select patients for PTPN11 mutation screening. The coding region of PTPN11 was amplified by polymerase chain reaction (PCR), followed by direct sequencing.
Results No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11 . No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations.
Conclusion Considering that no mutations were found in the present cohort with NS-related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al . criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS. 相似文献
Objective To evaluate the presence of mutations in PTPN11 in ISS children who presented NS-related signs and in well-characterized NS patients.
Patients and methods We studied 50 ISS children who presented at least two NS-associated signs but did not fulfil the criteria for NS diagnosis. Forty-nine NS patients diagnosed by the criteria of van der Burgt et al .
Results No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11 . No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations.
Conclusion Considering that no mutations were found in the present cohort with NS-related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al . criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS. 相似文献
18.
Palmer JT Bryant C Wang DX Davis DE Setti EL Rydzewski RM Venkatraman S Tian ZQ Burrill LC Mendonca RV Springman E McCarter J Chung T Cheung H Janc JW McGrath M Somoza JR Enriquez P Yu ZW Strickley RM Liu L Venuti MC Percival MD Falgueyret JP Prasit P Oballa R Riendeau D Young RN Wesolowski G Rodan SB Johnson C Kimmel DB Rodan G 《Journal of medicinal chemistry》2005,48(24):7520-7534
We have prepared a series of achiral aminoacetonitriles, bearing tri-ring benzamide moieties and an aminocyclohexanecarboxylate residue at P2. This combination of binding elements resulted in sub-250 pM, reversible, selective, and orally bioavailable cathepsin K inhibitors. Lead compounds displayed single digit nanomolar inhibition in vitro (of rabbit osteoclast-mediated degradation of bovine bone). The best compound in this series, 39n (CRA-013783/L-006235), was orally bioavailable in rats, with a terminal half-life of over 3 h. 39n was dosed orally in ovariectomized rhesus monkeys once per day for 7 days. Collagen breakdown products were reduced by up to 76% dose-dependently. Plasma concentrations of 39n above the bone resorption IC50 after 24 h indicated a correlation between functional cellular and in vivo assays. Inhibition of collagen breakdown by cathepsin K inhibitors suggests this mechanism of action may be useful in osteoporosis and other indications involving bone resorption. 相似文献
19.
Seropositivity for and Intestinal Colonization with Entamoeba histolytica and Entamoeba dispar in Individuals in Northeastern Brazil 下载免费PDF全文
Lucia L. Braga Yacy Mendonca Clece A. Paiva Andrea Sales Andre L. M. Cavalcante Barbara J. Mann 《Journal of clinical microbiology》1998,36(10):3044-3045
In a slum community in northeastern Brazil 20% of a sample population was colonized with Entamoeba histolytica or Entamoeba dispar and 10.6% was colonized with E. histolytica alone. No correlation between seropositivity for anti-GalNAc lectin antibody and colonization was found. These results suggest that colonization does not necessarily produce immunity to reinfection. 相似文献
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