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51.
Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene 下载免费PDF全文
P. Wang P.S. Henthorn E. Galban G. Lin T. Takedai M. Casal 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):340-347
Background
GM2‐gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β‐hexosaminidase A (Hex‐A) and β‐hexosaminidase B (Hex‐B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency.Objectives
To characterize the phenotype and genotype of GM2‐gangliosidosis disease in an affected dog.Animals
One affected Shiba Inu and a clinically healthy dog.Methods
Clinical and neurologic evaluation, brain magnetic resonance imaging (MRI), assays of lysosomal enzyme activities, and sequencing of all coding regions of HEXA, HEXB, and GM2A genes.Results
A 14‐month‐old, female Shiba Inu presented with clinical signs resembling GM2‐gangliosidosis in humans and GM1‐gangliosidosis in the Shiba Inu. Magnetic resonance imaging (MRI) of the dog's brain indicated neurodegenerative disease, and evaluation of cerebrospinal fluid (CSF) identified storage granules in leukocytes. Lysosomal enzyme assays of plasma and leukocytes showed deficiencies of Hex‐A and Hex‐B activities in both tissues. Genetic analysis identified a homozygous, 3‐base pair deletion in the HEXB gene (c.618‐620delCCT).Conclusions and Clinical Importance
Clinical, biochemical, and molecular features are characterized in a Shiba Inu with GM2‐gangliosidosis. The deletion of 3 adjacent base pairs in HEXB predicts the loss of a leucine residue at amino acid position 207 (p.Leu207del) supporting the hypothesis that GM2‐gangliosidosis seen in this dog is the Sandhoff type. Because GM1‐gangliosidosis also exists in this breed with almost identical clinical signs, genetic testing for both GM1‐ and GM2‐gangliosidosis should be considered to make a definitive diagnosis. 相似文献52.
53.
Contrast‐Enhanced Ultrasound Examination for the Assessment of Renal Perfusion in Cats with Chronic Kidney Disease 下载免费PDF全文
E. Stock D. Paepe S. Daminet E. Vandermeulen L. Duchateau K. Vanderperren 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):260-266
Background
Contrast‐enhanced ultrasound examination (CEUS) is a functional imaging technique allowing noninvasive assessment of tissue perfusion. Studies in humans show that the technique holds great potential to be used in the diagnosis of chronic kidney disease (CKD). However, data in veterinary medicine are currently lacking.Objectives
To evaluate renal perfusion using CEUS in cats with CKD.Animals
Fourteen client‐owned cats with CKD and 43 healthy control cats.Methods
Prospective case‐controlled clinical trial using CEUS to evaluate renal perfusion in cats with CKD compared to healthy control cats. Time‐intensity curves were created, and perfusion parameters were calculated using off‐line software. A linear mixed model was used to examine differences between perfusion parameters of cats with CKD and healthy cats.Results
In cats with CKD, longer time to peak and shorter mean transit times were observed for the renal cortex. In contrast, a shorter time to peak and rise time were seen for the renal medulla. The findings for the renal cortex indicate decreased blood velocity and shorter total duration of enhancement, likely caused by increased vascular resistance in CKD. Increased blood velocity in the renal medulla has not been described before and may be because of a different response to regulatory factors in cortex and medulla.Conclusions and Clinical Importance
Contrast‐enhanced ultrasound examination was capable of detecting perfusion changes in cats with CKD. Further research is warranted to assess the diagnostic capabilities of CEUS in early stage of the disease process. 相似文献54.
Comparison of Single,Averaged, and Pooled Urine Protein:Creatinine Ratios in Proteinuric Dogs Undergoing Medical Treatment 下载免费PDF全文
S. Shropshire J. Quimby R. Cerda 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):288-294
Background
Monitoring urine protein:creatinine ratios (UPC ) in dogs with protein‐losing nephropathy (PLN ) is challenging because of day‐to‐day variation in UPC results.Hypothesis/Objectives
Determine whether single, averaged, or pooled samples from PLN dogs receiving medical treatment yield comparable UPC s, regardless of degree of proteinuria.Animals
Twenty‐five client‐owned PLN dogs receiving medical treatment.Methods
UPC ratios were prospectively measured in each dog utilizing 3 methods: single in‐hospital sample (day 3), average sample (days 1–3), and pooled sample (equal pooling of urine from days 1–3). Bland‐Altman analysis was performed to evaluate agreement between methods for all dogs, as well as in subgroups of dogs (UPC ≤4 or UPC >4).Results
For all dogs, Bland‐Altman log‐transformed 95% limits of agreement were ?0.07–0.18 (single versus pooled UPC ), ?0.06–0.16 (single versus average UPC ), and ?0.06–0.04 (pooled versus average UPC ). For dogs with UPC ≤4, Bland‐Altman 95% limits of agreement were ?0.42–0.82 (single versus pooled UPC ), ?0.38–0.76 (single versus average UPC ), and ?0.27–0.25 (pooled versus average UPC ). For dogs with UPC >4, Bland‐Altman 95% limits of agreement were ?0.17–2.4 (single versus pooled UPC ), ?0.40–2.2 (single versus average UPC ), and ?0.85–0.43 (pooled versus average UPC ).Conclusions and Clinical Importance
UPC ratios from all methods were comparable in PLN dogs receiving medical treatment. In PLN dogs with UPC >4, more variability between methods exists likely because of higher in‐hospital results, but whether this finding is clinically relevant is unknown.55.
56.
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH‐Cytochrome B5 Reductase Gene 下载免费PDF全文
H. Shino Y. Otsuka‐Yamasaki T. Sato K. Ooi O. Inanami R. Sato M. Yamasaki 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):165-171
Background
In veterinary medicine, congenital methemoglobinemia associated with nicotinamide adenine dinucleotide (NADH)‐cytochrome b5 reductase (b5R) deficiency is rare. It has been reported in several breeds of dogs, but little information is available about its etiology.Objectives
To analyze the NADH‐cytochrome b5 reductase gene, CYB5R3, in a Pomeranian dog family with methemoglobinemia suspected to be caused by congenital b5R deficiency.Animals
Three Pomeranian dogs from a family with methemoglobinemia were analyzed. Five healthy beagles and 5 nonrelated Pomeranian dogs without methemoglobinemia were used as controls.Methods
Methemoglobin concentration, b5R activity, and reduced glutathione (GSH) concentration were measured, and a turbidity index was used to evaluate Heinz body formation. The CYB5R3 genes of the affected dog and healthy dogs were analyzed by direct sequencing.Results
Methemoglobin concentrations in erythrocytes of the affected dogs were remarkably higher than those of the control dogs. The b5R activity of the affected dogs was notably lower than that of the control dogs. DNA sequencing indicated that this Pomeranian family carried a CYB5R3 gene missense variant (ATC→CTC at codon 194) that resulted in the replacement of isoleucine (Ile) by leucine (Leu).Conclusions and Clinical Importance
This dog family had familial congenital methemoglobinemia caused by b5R deficiency, which resulted from a nonsynonymous variant in the CYB5R3 gene. This variation (c.580A>C) led to an amino acid substitution (p.Ile194Leu), and Ile194 was located in the proximal region of the NADH‐binding motif. Our data suggested that this variant in the canine CYB5R3 gene would affect function of the b5R in erythrocytes. 相似文献57.
Evaluation of Serum Symmetric Dimethylarginine Concentration as a Marker for Masked Chronic Kidney Disease in Cats With Hyperthyroidism 下载免费PDF全文
58.
Prediction of chemical composition and peroxide value in unground pet foods by near‐infrared spectroscopy 下载免费PDF全文
M. De Marchi F. Righi M. Meneghesso D. Manfrin R. Ricci 《Journal of animal physiology and animal nutrition》2018,102(1):337-342
The massive development of the pet food industry in recent years has lead to the formulation of hundreds of canine and feline complete extruded foods with the objective of meeting both the needs of the animals and numerous demands from pet owners. In the meantime, highly variable raw material compositions and the industry's new production techniques oblige manufacturers to monitor all phases of the extrusion process closely in order to ensure the targeted composition and quality of the products. This study aimed at evaluating the potential of infrared technology (visible and near‐infrared spectrophotometer; 570–1842 nm) in predicting the chemical composition and peroxide value (PV) of unground commercial extruded dog foods. Six hundred and forty‐nine commercial extruded dog foods were collected. For each product, an unground aliquot was analysed by infrared instrument while a second aliquot was sent to a laboratory for proximate analysis and PV quantification. The wide range of extruded dog food typologies included in the study was responsible for the wide variability observed within each nutritional trait, especially crude fibre and ash. The mean value of the 208 pet foods sampled for PV quantification was 17.49 mEq O2/kg fat (min 2.2 and max 94.10 mEq O2/kg fat). The coefficients of determination in cross‐validation of NIRS prediction models were 0.77, 0.97, 0.83, 0.86, 0.78 and 0.94 for moisture, crude protein, crude fat, crude fibre, ash and nitrogen‐free extract (NFE) respectively. PV prediction was less precise, as demonstrated by the coefficient of determination in cross‐validation (0.66). The results demonstrated the potential of NIRS in predicting chemical composition in unground samples, with lower accuracy for moisture and ash, while PV prediction models suggest use for screening purposes only. 相似文献
59.
J. Schäler R. Wellmann J. Bennewitz G. Thaller D. Hinrichs 《Acta Agriculturae Scandinavica, Section A - Animal Sciences》2018,68(2):63-72
Recovering native uniqueness has major importance for breeds with historic introgression. The aim of the study was to estimate population genetic parameters for two local red cattle breeds from Northern Germany and to study possibilities to reverse introgression. Genealogical information consisted of 90,783 individuals for German Angler and 187,255 individuals for Red Dual-Purpose cattle breed, with additional information on sex, born, breed, status, and conventional breeding values. It is concluded that the native genetic contribution could be included as an additional trait in the total merit index in order to recover a part of the native genetic background. Native contributions should be estimated in the long term from marker data in order to account for Mendelian sampling. The maintenance of a sufficient genetic diversity of native alleles can be achieved by an advanced OCS with appropriate constraints. 相似文献