全文获取类型
收费全文 | 314篇 |
免费 | 6篇 |
国内免费 | 1篇 |
专业分类
耳鼻咽喉 | 19篇 |
儿科学 | 37篇 |
妇产科学 | 4篇 |
基础医学 | 38篇 |
口腔科学 | 10篇 |
临床医学 | 56篇 |
内科学 | 29篇 |
皮肤病学 | 5篇 |
神经病学 | 7篇 |
特种医学 | 30篇 |
外科学 | 21篇 |
综合类 | 23篇 |
预防医学 | 16篇 |
眼科学 | 1篇 |
药学 | 17篇 |
中国医学 | 4篇 |
肿瘤学 | 4篇 |
出版年
2021年 | 4篇 |
2020年 | 2篇 |
2019年 | 6篇 |
2018年 | 2篇 |
2017年 | 2篇 |
2015年 | 5篇 |
2014年 | 23篇 |
2013年 | 22篇 |
2012年 | 19篇 |
2011年 | 11篇 |
2010年 | 11篇 |
2009年 | 13篇 |
2008年 | 4篇 |
2007年 | 8篇 |
2006年 | 7篇 |
2005年 | 4篇 |
2004年 | 2篇 |
2003年 | 8篇 |
2002年 | 3篇 |
2001年 | 2篇 |
2000年 | 7篇 |
1999年 | 2篇 |
1998年 | 13篇 |
1997年 | 18篇 |
1996年 | 11篇 |
1995年 | 9篇 |
1994年 | 10篇 |
1993年 | 12篇 |
1991年 | 4篇 |
1990年 | 5篇 |
1989年 | 3篇 |
1988年 | 1篇 |
1987年 | 1篇 |
1986年 | 1篇 |
1985年 | 1篇 |
1984年 | 3篇 |
1983年 | 2篇 |
1981年 | 2篇 |
1980年 | 1篇 |
1979年 | 1篇 |
1978年 | 3篇 |
1977年 | 1篇 |
1976年 | 1篇 |
1958年 | 1篇 |
1957年 | 2篇 |
1956年 | 2篇 |
1954年 | 2篇 |
1952年 | 16篇 |
1951年 | 23篇 |
1950年 | 2篇 |
排序方式: 共有321条查询结果,搜索用时 109 毫秒
241.
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome 总被引:2,自引:0,他引:2
Bevan CL; Brown BB; Davies HR; Evans BA; Hughes IA; Patterson MN 《Human molecular genetics》1996,5(2):265-273
Partial androgen insensitivity syndrome (PAIS) is caused by defects in the
androgen receptor gene and presents with a wide range of undervirilization
phenotypes. We studied the consequences of six androgen receptor
ligand-binding domain mutations on receptor function in transfected cells.
The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and
Ile869Met, were identified in PAIS patients with phenotypes representing
the full spectrum seen in this condition. In all cases the androgen
receptor was found to be defective, suggesting that the mutation is the
cause of the clinical phenotype. The Gln798Glu mutation is exceptional in
that it did not cause an androgen-binding defect in our system, although
the mutant receptor was defective in transactivation assays. This mutation
may affect an aspect of binding not tested, or may be part of a functional
subdomain of the ligand-binding domain involved in transactivation. Overall
we found milder mutations to be associated with milder clinical phenotypes.
There is also clear evidence that phenotype is not solely dependent on
androgen receptor function. Some of the mutant receptors were able to
respond to high doses of androgen in vitro, suggesting that patients
carrying these mutations may be the best candidates for androgen therapy.
One such mutation is Ile869Met. A patient carrying this mutation has
virilized spontaneously at puberty, so in vivo evidence agrees with the
experimental result. Thus a more complete understanding of the functional
consequences of androgen receptor mutations may provide a more rational
basis for gender assignment in PAIS.
相似文献
242.
243.
244.
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 总被引:14,自引:0,他引:14
Craig HD; Gunel M; Cepeda O; Johnson EW; Ptacek L; Steinberg GK; Ogilvy CS; Berg MJ; Crawford SC; Scott RM; Steichen-Gersdorf E; Sabroe R; Kennedy CTC; Mettler G; Beis MJ; Fryer A; Awad IA; Lifton RP 《Human molecular genetics》1998,7(12):1851-1858
Cerebral cavernous malformation (CCM) is a Mendelian model of stroke,
characterized by focal abnormalities in small intracranial blood vessels
leading to hemorrhage and consequent strokes and/or seizures. A significant
fraction of cases is inherited as an autosomal dominant trait with
incomplete penetrance. Among Hispanic Americans, virtually all CCM is
attributable to a founder mutation localized to 7q ( CCM1 ). Recent
analysis of non-Hispanic Caucasian kindreds, however, has excluded linkage
to 7q in some, indicating at least one additional CCM locus. We now report
analysis of linkage in 20 non-Hispanic Caucasian kindreds with familial
CCM. In addition to linkage to CCM1, analysis of linkage demonstrates
linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25.2-27. Multilocus
analysis yields a maximum lod score of 14.11, with 40% of kindreds linked
to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant
evidence for linkage to three loci (linkage to three loci supported with an
odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over
linkage to one locus). Multipoint analysis among families with high
posterior probabilities of linkage to each locus refines the locations of
CCM2 and CCM3 to approximately 22 cM intervals. Linkage to these three loci
can account for inheritance of CCM in all kindreds studied. Significant
locus- specific differences in penetrance are identified. These findings
have implications for genetic testing of this disorder and represent an
important step toward identification of the molecular basis of this
disease.
相似文献
245.
Conservative management of azoospermia following steroid abuse 总被引:1,自引:0,他引:1
Gazvani MR; Buckett W; Luckas MJ; Aird IA; Hipkin LJ; Lewis-Jones DI 《Human reproduction (Oxford, England)》1997,12(8):1706-1708
As well as athletes and competitive body builders, recreational body
builders attending gymnasia are known to abuse anabolic steroids, using
doses from 10- to 40-fold above physiological levels. Androgenic steroids
induce hypogonadotrophic hypogonadism with associated azoospermia, leading
to infertility. Little literature exists on the treatment of
steroid-induced azoospermia following the cessation of abuse. We present
four cases of steroid-induced azoospermia, its conservative management and
eventual return of normal semen density.
相似文献
246.
Merriman TR; Eaves IA; Twells RC; Merriman ME; Danoy PA; Muxworthy CE; Hunter KM; Cox RD; Cucca F; McKinney PA; Shield JP; Baum JD; Tuomilehto J; Tuomilehto- Wolf E; Ionesco-Tirgoviste C; Joner G; Thorsby E; Undlien DE; Pociot F; Nerup J; Ronningen KS; Bain SC; Todd JA 《Human molecular genetics》1998,7(3):517-524
Allelic association methods based on increased transmission of marker
alleles will have to be employed for the mapping of complex disease
susceptibility genes. However, because the extent of association of single
marker alleles with disease is a function of the relative frequency of the
allele on disease-associated chromosomes versus non disease-predisposing
chromosomes, the most associated marker allele in a region will not
necessarily be closest to the disease locus. To overcome this problem we
describe a haplotype-based approach developed for mapping of the putative
type 1 diabetes susceptibility gene IDDM6. Ten microsatellite markers
spanning a 550 kb segment of chromosome 18q21 in the putative IDDM6 region
were genotyped in 1708 type 1 diabetic Caucasian families from seven
countries. The most likely ancestral diabetogenic chromosome was
reconstructed in a stepwise fashion by analysing linkage disequilibrium
between a previously defined haplotype of three adjacent markers and the
next marker along the chromosome. A plot of transmission from heterozygous
parents to affected offspring of single marker alleles present on the
ancestral chromosome versus the physical distance between them, was
compared with a plot of transmission of haplotypes of groups of three
adjacent markers. Analysing transmission of haplotypes largely negated
apparent decreases in transmission of single marker alleles. Peak support
for association of the D18S487 region with IDDM6 is P = 0.0002 (corrected P
= 0.01). The results also demonstrate the utility of polymorphic
microsatellite markers to trace and delineate extended and presumably
ancient haplotypes in the analysis of common disease and in the search for
identical-by-descent chromosome regions that carry an aetiological variant.
相似文献
247.
248.
249.
250.