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31.
Xp-duplications with and without sex reversal 总被引:5,自引:0,他引:5
Annette Baumstark Gotthold Barbi Mahmoud Djalali Claudia Geerkens Beate Mitulla Torsten Mattfeldt José Carlos Cabral de Almeida Fernando Regla Vargas Juan Clinton Llerena Jr Walther Vogel Walter Just 《Human genetics》1996,97(1):79-86
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY, der(22), t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS. 相似文献
32.
Claudia Gaspar Iscia Lopes-Cendes Anita L. DeStefano Patrícia Maciel Isabel Silveira Paula Coutinho Patrick MacLeod Jorge Sequeiros Lindsay A. Farrer G. A. Rouleau 《Human genetics》1996,98(5):620-624
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration originally described in families of Portuguese-Azorean
ancestry. The hypothesis that its present world distribution could result from the spread of an original founder mutation
has been raised. To test this possibility we have conducted a linkage disequilibrium study of markers segregating with the
MJD1 locus in a total of 64 unrelated families of different geographical origins. Significant association was detected between
the MJD1 locus and marker alleles at loci D14S280, D14S1050 and D14S81. All affected individuals, except one Chinese family, had allele
3 (237 bp) at D14S280. This finding is consistent with a founder effect in our MJD population. However, distinct haplotypes
were observed in patients originating from the two Azorean islands showing the highest disease prevalence; therefore, the
possible existence of more than one founder mutation can not be excluded with the markers currently available.
Received: 27 February 1996 / Revised: 4 June 1996 相似文献
33.
Maria Claudia Gonzalez Deniselle Susana L. Gonzalez Gerardo G. Piroli Analia E. Lima Alejandro F. De Nicola 《Cellular and molecular neurobiology》1996,16(1):61-72
Summary 1. Wobbler mice suffer an autosomal recessive mutation producing severe motoneuron degeneration and dense astrogliosis, with
increased levels of glial fibrillary acidic protein (GFAP) in the spinal cord and brain stem. They have been considered animal
models of amyotrophic lateral sclerosis and infantile spinal muscular atrophy.
2. Using Wobbler mice and normal littermates, we investigated the effects of the membrane-active steroid Lazaroid U-74389F
on the number of GFAP-expressing astrocytes and glucocorticoid receptors (GR). Lazaroids are inhibitors of oxygen radical-induced
lipid peroxidation, and proved beneficial in cases of CNS injury and ischemia.
3. Four days after pellet implantation of U-74389F into Wobbler mice, hyperplasia and hypertophy of GFAP-expressing astrocytes
were apparent in the spinal cord ventral and dorsal horn, areas showing already intense astrogliosis in untreated Wobbler
mice. In control mice, U-74389F also produced astrocyte hyperplasia and hypertophy in the dorsal horn and hyperplasia in the
ventral-lateral funiculi of the cord.
4. Givenin vivo U-74389F did not change GR in spinal cord of Wobbler or control mice, in line with the concept that it is active in membranes
but does not bind to GR. Besides, U-74390F did not compete for [3H]dexamethasone binding when addedin vitro.
5. The results suggest that stimulation of proliferation and size of GFAP-expressing astrocytes by U-74389F may be a novel
mechanism of action of this compound. The Wobbler mouse may be a valuable animal model for further pharmacological testing
of glucocorticoid and nonglucocorticoid steroids in neurodegenerative diseases. 相似文献
34.
Jörg Dreessen Claudia Lutum Beat W. Schäfer Claus W. Heizmann Thomas Knöpfel 《Cell calcium》1996,19(6):527-533
We investigated whether the expression of human α-parvalbumin affects depolarization-induced elevations of the cytosolic free calcium concentration ([Ca2+]i) in human neuroblastoma SKNBE2 cells. A full length human parvalbumin cDNA was cloned by PCR from human cerebellum and transiently transfected into SKNBE2 cells. Immunofluorescence staining using an antibody raised against parvalbumin revealed a transfection efficacy of about 14%. In parvalbumin-expressing SKNBE2 cells, parvalbumin concentration determined by quantitative Western blotting amounted to 0.42 mM.Transfected SKNBE2 cells were depolarized for 2 min by 50 mM K+. During this period, [Ca2+]i was monitored by video microfluorimetry using the Ca2+ indicator Fura-2. In a fraction of cells, depolarization induced a transient elevation in [Ca2+]i The size of this elevation was compared with the immunofluorimetrically determined expression of parvalbumin on a cell-to-cell basis. Cells with a significant parvalbumin immunofluorescence responded to depolarization with smaller elevations in [Ca2+]i than non-parvalbumin-expressing cells. Resting [Ca 2+], did not differ between parvalbumin-expressing and control cells. These observations indicate that large depolarization-induced transient elevations of [Ca2+]i in neuroblastoma cells can be suppressed by parvalbumin. 相似文献
35.
A strain ofFusarium solani sensu Snyder & Hansen invaded the eggs of the insectPanstrongylus geniculatus in a vivarium. None of the invaded eggs hatched. To establish experimentally the pathogenicity of thisFusarium species against the eggs ofP. geniculatus, the fungus and the eggs were incubated together under different relative humidities and temperatures. At 64% relative humidity and 26 °C, the fungus grew well colonizing and penetrating all of the chorions.Three embryos died and were also colonized byF. solani. Only 4 nymphs hatched and survived to day 20. It is concluded that the isolate ofF. solani was capable of colonizing and invading the chorion of the eggs under certain humidity and temperature conditions and cause the death of the embryos. 相似文献
36.
A Familial Factor Independent of CAG Repeat Length Influences Age at Onset of Machado-Joseph Disease 总被引:3,自引:0,他引:3 下载免费PDF全文
Anita L. DeStefano L. Adrienne Cupples Patricia Maciel Claudia Gaspar Joao Radvany David M. Dawson Lewis Sudarsky Lee Corwin Paula Coutinho Patrick MacLeod Jorge Sequeiros Guy A. Rouleau Lindsay A. Farrer 《American journal of human genetics》1996,59(1):119-127
Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat sequence in a novel gene (MJD1) on chromosome 14. Previous studies showed that age at onset is negatively correlated with the number of CAG repeat units, but only part of the variation in onset age is explained by CAG repeat length. Ages at onset and CAG repeat lengths of 136 MJD patients from 23 kindreds of Portuguese descent were analyzed, to determine whether familial factors independent of CAG repeat length modulate age at onset of MJD. Correlation among sibs for onset age adjusted for CAG repeat length was .43, which indicates that an environmental or genetic factor common to sibs influences onset age. Positive correlations were also observed for avuncular (r = .22) and first-cousin pairs (r = .28), which supports the hypothesis that a genetic factor is influencing age at onset. Commingling analysis of onset ages adjusted for CAG repeat length identified three distributions in this population of affected individuals. Further studies of a much larger sample are needed to determine whether these distributions represent the influence of a genetic or environmental factor. 相似文献
37.
38.
Michael Dean J. Claiborne Stephens Cheryl Winkler Deborah A. Lomb Mark Ramsburg Raleigh Boaze Claudia Stewart Lauren Charbonneau David Goldman Bernard J. Albaugh James J. Goedert R. Palmer Beasley Lu-Yu Hwang Susan Buchbinder Michael Weedon Patricia A. Johnson Mary Eichelberger Stephen J. O'Brien 《American journal of human genetics》1994,55(4):788-808
A panel of 257 RFLP loci was selected on the basis of high heterozygosity in Caucasian DNA surveys and equivalent spacing throughout the human genome. Probes from each locus were used in a Southern blot survey of allele frequency distribution for four human ethnic groups: Caucasian, African American, Asian (Chinese), and American Indian (Cheyenne). Nearly all RFLP loci were polymorphic in each group, albeit with a broad range of differing allele frequencies (δ). The distribution of frequency differences (δ values) was used for three purposes: (1) to provide estimates for genetic distance (differentiation) among these ethnic groups, (2) to revisit with a large data set the proportion of human genetic variation attributable to differentiation within ethnic groups, and (3) to identify loci with high δ values between recently admixed populations of use in mapping by admixture linkage disequilibrium (MALD). Although most markers display significant allele frequency differences between ethnic groups, the overall genetic distances between ethnic groups were small (.066–.098), and <10% of the measured overall molecular genetic diversity in these human samples can be attributed to “racial” differentiation. The median δ values for pairwise comparisons between groups fell between .15 and .20, permitting identification of highly informative RFLP loci for MALD disease association studies. 相似文献
39.
Subunit c of the F1F0-ATPase from Propionigenium modestum was extracted from the particulate cell fraction with chloroform/methanol. The protein was further purified by carboxymethyl cellulose chromatography and anion exchange HPLC in the organic solvent. SDS-PAGE of the purified protein indicated a single stained protein band migrating as expected for the c-subunit. Incubation of isolated subunit c in chlorform/methanol or aqueous buffer containing dodecyl-β-
-maltoside with [14C]dicyclohexylcarbodiimide (DCCD) resulted in the incorporation of radioactivity into the protein. The rate of this reaction depended on the external pH; it was significantly faster in the more acidic than in the alkaline pH range. In the presence of Na+ subunit c was partially protected from labeling with [14C]DCCD at pH 6.1 and at pH 7.5, whereas no protection was evident at pH 5.5. At pH 7.5, the rate of subunit c labeling by [14C]DCCD in the presence of 20 mM NaCl was about 50% lower than in the absence of Na+ ions. The isolated c-subunit therefore apparently retains in part the Na+ binding site which, when occupied, diminishes the reactivity of the protein towards DCCD. 相似文献
40.
Several products of metabolism and aromatic ring cleavage of 3-methoxy and 3,4-dimethoxycinnamic acid from ligninolytic cultures of Lentinus edodes were isolated and identified. 相似文献