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A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY 总被引:4,自引:0,他引:4
Ken McElreavey Raphaël Rappaport Eric Vilain Nacer Abbas François Richaud Stéphen Lortat-Jacob Roland Berger Maryvonne LeConiat Chafika Boucekkine Kiran Kucheria Samia Temtamy Claire Nihoul-Fekete Raja Brauner Marc Fellous 《Human genetics》1992,90(1-2):121-125
Summary A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases. 相似文献
3.
Alice Abd El-Aleem Ingolf Böhm Samia Temtamy Mostafa El-Awady Mohamed Awadalla Jörg Schmidtke Manfred Stuhrmann 《Human genetics》1995,96(5):577-584
Molecular genetic analysis of individuals from 6 Egyptian and 33 German families with fragile X syndrome and 240 further patients with mental retardation was performed applying a completely non-radioactive system. The aim of our study was the development of a non-radioactive detection method and its implementation in molecular diagnosis of the fragile X syndrome. Furthermore, we wanted to assess differences in the mutation sizes between Egyptian and German patients and between Egyptian and German carriers of a premutation. Using non-radioactive polymerase chain reaction (PCR), agarose gel electrophoresis and blotting of the PCR products, followed by hybridisation with a digoxigenin-labelled oligonucleotide probe (CGG)5 and chemiluminescent detection, we identified the fragile X full mutation (amplification of a CGG repeat in the FMR-1 gene ranging from several hundred to several thousand repeat units) in all patients. We observed no differences in the length of the CGG repeat between the Egyptian and German patients and carriers, respectively. However, in one prenatal diagnosis, we detected only one normal sized allele in a female fetus using the PCR-agarose assay, whereas Southern blot analysis with the digoxigenin labelled probe StB 12.3 revealed presence of a full mutation. Our newly established nonradioactive genomic blotting method is based on the conventional radioactive Southern blot analysis. Labelling of the probe StB 12.3 with digoxigenin via PCR allowed the detection of normal, premutated and fully mutated alleles. For exact sizing of small premutated or large normal alleles, we separated digoxigenin labelled PCR products through denaturing poly-acrylamide gelelectrophoresis (PAGE) and transfered them to a nylon membrane using a gel dryer. The blotted PCR-fragments can easily be detected with alkaline phosphate-labelled anti-digoxigenin antibody. The number of trinucleotide repeat units can be determined by scoring the detected bands against a digoxigenated M13 sequencing ladder. Our newly developed digoxigenin/chemiluminescence approach using PCR and Southern blot analysis provides reliable results for routine detection of full fragile X mutations and premutations. 相似文献
4.
Youcef Merzouki Karim Souttou Makhlouf Sekour Samia Daoudi-Hacini Salaheddine Doumandji 《Comptes rendus biologies》2014,337(1):53-61
The diet of the House Martin Delichon urbica was analyzed in a suburban area in Pins maritimes, northeast of Algiers (Algeria). The diet was determined by analyzing 120 faecal samples collected from a breeding colony between April and September 2007. Insects were the most numerous prey types (99.86%). Hymenopterans were the dominant preys (56.99%), followed by Coleopterans (20.14%), Homopterans (14.22%), Heteropterans (5.45%), and Dipterans (3.10%). Division of the prey items into families demonstrated that the highest relative frequency was large Hymenopterans in the family Formicidae (54.0%). The dominant species in the diet was Tetramorium biskrensis, which comprised 32.6% of the diet. It was followed by Camponotus barbaricus (6.9%) and Monomorium salomonis (5.6%). Comparison between diet and availability of preys using the Savage index showed that T. biskrensis, Crematogaster scutelaris, Pheidole pallidula, Diptera sp. unident. and Aphidae sp. unident. were positively selected by D. urbica. 相似文献
5.
Bouchra Benmansour Feriel Youssef Manel Ben Ali Bander Albogami Fehmi Boufahja 《Saudi Journal of Biological Sciences》2022,29(5):3610-3616
Between 2018 and 2020, 696 fish belonging to two species of sharks from the Family Triakidae (Mustelus mustelus and M. punctulatus) were collected from the coasts of Tunisia and inspected for parasites. Six copepod taxa (Perissopus dentatus Steenstrup & Lütken, 1861, Eudactylinella alba Wilson, 1932, Kroyeria lineata Van Beneden, 1853, Nesippus orientalis Heller, 1865 and Lernaeopoda galei Krøyer, 1837, Kroyeria sp.), four isopod species (Anilocra physodes (Linnaeus, 1758), Emetha audouini (H. Milne Edwards, 1840), Ceratothoa parallela (Otto, 1828) and Ceratothoa oestroides (Risso, 1816)) and two monogenean species (Erpocotyle sp1. And Erpocotyle sp2) were collected. A large number of global host records was reported, including the occurrence of E. audouini on M. mustelus and of Erpocotyle sp.2 on M. punctulatus. The study of the diversity of parasites per host species revealed that M. mustelus had a higher parasitic richness compared to M. punctulatus. In this study, it was provided for the first records on ectoparasites on Triakidae sharks from Tunisian coasts and their infection indices. 相似文献
6.
Vanessa I. Rohlf Samia Toukhsati Grahame J. Coleman Pauleen C. Bennett 《Journal of applied animal welfare science : JAAWS》2013,16(3):213-236
Dog obesity is a common nutritional disorder affecting up to 40% of the companion animal (pet) dog population in Australia and other developed nations. A clear understanding of factors determining relevant caregiver (owner) behaviors underpins effective treatment for this disorder. The theory of planned behavior can be used to understand factors contributing to human behavior. This article describes research informed by this theory. The research examined relationships between owners' behavioral beliefs and barriers, normative beliefs and perceptions of control, owners' feeding and exercise behaviors toward their dogs, and the body condition scores (BCSs) of dogs. The study recruited a sample of 182 dog and owner dyads. The researcher independently assessed BCSs. Owners completed a questionnaire measuring relevant feeding and exercise beliefs and behaviors. This revealed significant correlations between many psychological variables and BCSs and between psychological variables and specific owner behaviors: for example, the relationship of low levels of intentions to feed appropriately to ambivalent beliefs toward feeding appropriately and low perceived control. Careful consideration of the specific variables identified will permit the development of more effective interventions. 相似文献
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8.
Samia Aci Jean Ramstein Daniel Genest 《Journal of biomolecular structure & dynamics》2013,31(6):833-839
Abstract The thermodynamics of the opening/closure process of a GC base pair located at the stem-loop junction of the SL1 sequence from HIV-1Lai genomic RNA was investigated in the context of a loop-loop homodimer (or kissing complex) using molecular dynamics simulation. The free energy, enthalpy and entropy changes for the closing reaction are 0 kcal·mol?1, ?11 kcal·mol?1and ?0.037 kcal·mol?1-K?1 at 300° K respectively. Furthermore it is found that the free energy change is the same for the formation of a 11 nucleotide loop closed with UG and for the formation of a 9 nucleotide loop closed with GC. Our study evidences the high flexibility of the nucleotides at the stem-loop junction explaining the weak stability of this structure. 相似文献
9.
Sihem Dabbou Samia Dabbou Guido Flamini Gaetano Pandino Laura Gasco Ahmed Noureddine Helal 《化学与生物多样性》2016,13(11):1475-1483
The phytochemical composition in two Tunisian globe artichoke cultivars (bracts, leaves, and floral stems) was evaluated in the plant byproducts. The results indicated that the bracts contain the highest levels of total phenols, o‐diphenols, and flavonoids, whereas tannins seem to be more abundant in the leaves. Bracts from the ‘Violet d'Hyères’ cultivar possessed more total phenols (160.8 mg/g DW), flavonoids (64.9 mg/g DW), and anthocyanins (15.3 μg/g DW) than the ‘Blanc d'Oran’ bracts (134.5 mg/g DW, 51.2 mg/g DW, and 8.3 μg/g DW, resp.). Sixty‐four volatile compounds were identified in the headspace of globe artichoke material, particularly in the bracts. The volatile profile showed that sesquiterpene hydrocarbons and non‐terpene derivatives were the main volatiles emitted by the bracts in both cultivars. These results suggest that globe artichoke byproducts might represent a potential source of natural compounds, which could be used as nutraceuticals or as ingredients in the design of functional foods. 相似文献
10.
Tasnim Ayadi Abdessalem Hammouda Samia Kididi Mohamed Habib Yahyaoui Slaheddine Selmi 《Ostrich》2016,87(2):173-177
Like the majority of Columbiformes, the Laughing Dove Spilopelia senegalensis is sexually monomorphic in plumage, but seems to be slightly dimorphic in size. However, due to the lack of studies little is known about the sexual size dimorphism in this species. In this work, we used morphometric data on a sample of 61 Laughing Doves from southern Tunisia, and sexed using a DNA-based method, to assess size differences between males and females and to determine a discriminant function useful for sex identification. The results showed that wing length was the most dimorphic trait, which could be due to the effects of sexual selection. The best function for the discrimination between sexes included wing length and head length, which is comparable with findings on other dove species. This discriminant function accurately classified 89% of birds, providing a rapid and accurate tool for sex identification in the studied population. Further data from different populations are needed for firmer conclusions about the extent of sexual size dimorphism and the reliability of the morphometric sexing approach in this dove species. 相似文献