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141.
Measurements of oxygen consumption (VO2) were made during sleep in 10 patients with atopic dermatitis. Two groups of healthy children acted as controls. All subjects were studied in bed in an environmental temperature of 24-26 degrees C, and sleep was confirmed during continuous electroencephalographic monitoring. Mean (SD) values of VO2 in sleeping patients who were not scratching ranged from 4.0 (0.4) to 7.4 (0.7), which was not statistically significantly different from control values which ranged from 3.24 (0.3) to 5.56 (0.4). During scratching (while asleep), which occurred in nine out of 10 patients with atopic dermatitis, the mean values of VO2 ranged from 4.5 (0.04) to 10.4 (2.7), and this was significantly higher than the non-scratching patients and the control values. Scratching during sleep in children with atopic dermatitis is associated with increased VO2. 相似文献
142.
143.
Frequent deletion of chromosome 1p sequences in an aggressive histologic subtype of endometrial cancer 总被引:1,自引:0,他引:1
Arlt MF; Herzog TJ; Mutch DG; Gersell DJ; Liu H; Goodfellow PJ 《Human molecular genetics》1996,5(7):1017-1021
The molecular genetic events underlying endometrial tumorigenesis are
ill-defined at present. We have identified a region on the short arm of
chromosome 1 which is frequently deleted in endometrial cancers. The region
of deletion has been localized to bands 1p32-33. Deletion of 1p32-33 is
seen more frequently in cancers of the highly aggressive papillary serous
type than in cancers of the less-aggressive endometrioid type. These data
suggest the presence of a tumor suppressor gene on 1p32-33 which is
specifically involved in the development of endometrial cancers with poor
outcome.
相似文献
144.
145.
146.
147.
Margolis RL; Stine OC; McInnis MG; Ranen NG; Rubinsztein DC; Leggo J; Brando LV; Kidwai AS; Loev SJ; Breschel TS; Callahan C; Simpson SG; DePaulo JR; McMahon FJ; Jain S; Paykel ES; Walsh C; DeLisi LE; Crow TJ; Torrey EF; Ashworth RG; Macke JP; Nathans J; Ross CA 《Human molecular genetics》1996,5(5):607-616
The two most consistent features of the diseases caused by trinucleotide
repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic
anticipation-may be present in forms of dementia, hereditary ataxia,
Parkinsonism, bipolar affective disorder, schizophrenia and autism. To
identify candidate genes for these disorders, we have screened human brain
cDNA libraries for the presence of gene fragments containing polymorphic
trinucleotide repeats. Here we report the cDNA cloning of CAGR1, originally
detected in a retinal cDNA library. The 2743 bp cDNA contains a 1077 bp
open reading frame encoding 359 amino acids. This amino acid sequence is
homologous (56% amino acid identify and 81% amino acid conservation) to the
Caenorhabditis elegans cell fate-determining protein mab-21. CAGR1 is
expressed in several human tissues, most prominently in the cerebellum, as
a message of approximately 3.0 kb. The gene was mapped to 13q13, just
telomeric to D13S220. A 5'-untranslated CAG trinucleotide repeat is highly
polymorphic, with repeat length ranging from six to 31 triplets and a
heterozygosity of 87-88% in 684 chromosomes from several human populations.
One allele from an individual with an atypical movement disorder and
bipolar affective disorder type II contains 46 triplets, 15 triplets longer
than any other allele detected. Though insufficient data are available to
link the long repeat to this clinical phenotype, an expansion mutation of
the CAGR1 repeat can be considered a candidate for the etiology of
disorders with anticipation or developmental abnormalities, and
particularly any such disorders linked to chromosome 13.
相似文献
148.
Stec I; Wright TJ; van Ommen GJ; de Boer PA; van Haeringen A; Moorman AF; Altherr MR; den Dunnen JT 《Human molecular genetics》1998,7(7):1071-1082
Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a
hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). The
smallest region of overlap between WHS patients, the WHS critical region,
has been confined to 165 kb, of which the complete sequence is known. We
have identified and studied a 90 kb gene, designated as WHSC1 , mapping to
the 165 kb WHS critical region. This 25 exon gene is expressed ubiquitously
in early development and undergoes complex alternative splicing and
differential polyadenylation. It encodes a 136 kDa protein containing four
domains present in other developmental proteins: a PWWP domain, an HMG box,
a SET domain also found in the Drosophila dysmorphy gene ash -encoded
protein, and a PHD-type zinc finger. It is expressed preferentially in
rapidly growing embryonic tissues, in a pattern corresponding to affected
organs in WHS patients. The nature of the protein motifs, the expression
pattern and its mapping to the critical region led us to propose WHSC1 as a
good candidate gene to be responsible for many of the phenotypic features
of WHS. Finally, as a serendipitous finding, of the t(4;14) (p16.3;q32.3)
translocations recently described in multiple myelomas, at least three
breakpoints merge the IgH and WHSC1 genes, potentially causing fusion
proteins replacing WHSC1 exons 1-4 by the IgH 5'-VDJ moiety.
相似文献
149.
Almost exactly 50 years ago, R. A. Fisher and R. Race proposed a model for
the evolution of the RH (rhesus) genes in which the less common haplotypes
were derived from the commoner ones by recombination, and in which the gene
order was D-C-E. No direct-evidence bearing on this model was available
then, and has not been until now. Here we present evidence for
non-reciprocal intergenic exchange (gene conversion) occurring once in
human history to generate the common RHCE allele, Ce. We have also used new
polymorphisms to construct haplotypes which suggest that intragenic
recombination played a major role in the generation of the less common
haplotypes, but only if RHD lies 3' of RHCE, i.e. the order is C-E-D. We
provide both genetic and physical evidence supporting this arrangement.
相似文献
150.