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41.
Heinritz W Kotzot D Heinze S Kujat A Kleemann WJ Froster UG 《American journal of medical genetics. Part A》2005,(2):198-201
We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, aberrant and inappropriate behavior, and borderline intelligence. Molecular cytogenetic studies (FISH) showed that the SRY gene was present on both ends of the idicY, while there was only one signal for the Yq subtelomere probe. Molecular investigations by multiplex PCR, using STS markers covering the short and long arm of the Y chromosome did not indicate a deletion of Y chromosomal material. Molecular investigations of STR markers located on Xp22.3 and Xq28 indicated paternal origin of the additional X chromosome and an error in paternal meiosis I. Results of FISH analysis and molecular investigations are compatible with a phenotype as described for individuals with a 48,XXYY karyotype and support the findings that isodicentric Y chromosomes are frequently accompanied by other sex chromosomal abnormalities. 相似文献
42.
The effect of ovarian steroids on epithelial ciliary beat frequency in the human Fallopian tube 总被引:3,自引:3,他引:3
Mahmood T; Saridogan E; Smutna S; Habib AM; Djahanbakhch O 《Human reproduction (Oxford, England)》1998,13(11):2991-2994
Using a method that detects variations in light intensity we have studied
the effect of ovarian steroids on human Fallopian tube epithelial ciliary
beat frequency in vitro. We have found that baseline ciliary beat frequency
averages between 5-6 Hz. Cilia from ampullary segments of the Fallopian
tube beat significantly faster (5.4 Hz+/-0.2) than those from fimbrial
segments (4.8 Hz+/-0.2). There was no significant difference in baseline
ciliary beat frequency at any other anatomical site in the Fallopian tube.
Incubation with progesterone (10 micromol/l) suppresses human Fallopian
tube epithelial ciliary beat frequency by 40-50%. This inhibition was
observed at similar magnitudes in all Fallopian tubes studied irrespective
of anatomical site. Progesterone-induced reductions in ciliary beat
frequency were concentration dependent and prevented by the progesterone
receptor antagonist mifepristone (RU486). Oestradiol alone (10 micromol/l)
had no effect on ciliary beat frequency at any anatomical site in the
Fallopian tube but did prevent the reduction in ciliary beat frequency seen
with progesterone when tissues were incubated with these two steroids
together.
相似文献
43.
44.
45.
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region 总被引:4,自引:0,他引:4
46.
47.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 总被引:22,自引:1,他引:22
Marsh DJ; Coulon V; Lunetta KL; Rocca-Serra P; Dahia PL; Zheng Z; Liaw D; Caron S; Duboue B; Lin AY; Richardson AL; Bonnetblanc JM; Bressieux JM; Cabarrot-Moreau A; Chompret A; Demange L; Eeles RA; Yahanda AM; Fearon ER; Fricker JP; Gorlin RJ; Hodgson SV; Huson S; Lacombe D; Eng C 《Human molecular genetics》1998,7(3):507-515
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403
amino acid dual specificity phosphatase (protein tyrosine phosphatase;
PTPase), was shown recently to play a broad role in human malignancy.
Somatic PTEN deletions and mutations were observed in sporadic breast,
brain, prostate and kidney cancer cell lines and in several primary tumours
such as endometrial carcinomas, malignant melanoma and thyroid tumours. In
addition, PTEN was identified as the susceptibility gene for two hamartoma
syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or
Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD
families and seven BZS families was screened for germline PTEN mutations.
PTEN mutations were identified in 30 of 37 (81%) CD families, including
missense and nonsense point mutations, deletions, insertions, a
deletion/insertion and splice site mutations. These mutations were
scattered over the entire length of PTEN , with the exception of the first,
fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified
in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD
mutations identified in this exon. Seven of 30 (23%) were within the core
motif, the majority (five of seven) of which were missense mutations,
possibly pointing to the functional significance of this region. Germline
PTEN mutations were identified in four of seven (57%) BZS families studied.
Interestingly, none of these mutations was observed in the PTPase core
motif. It is also worthy of note that a single nonsense point mutation,
R233X, was observed in the germline DNA from two unrelated CD families and
one BZS family. Genotype-phenotype studies were not performed on this small
group of BZS families. However, genotype-phenotype analysis inthe group of
CD families revealed two possible associations worthy of follow-up in
independent analyses. The first was an association noted in the group of CD
families with breast disease. A correlation was observed between the
presence/absence of a PTEN mutation and the type of breast involvement
(unaffected versus benign versus malignant). Specifically and more
directly, an association was also observed between the presence of a PTEN
mutation and malignant breast disease. Secondly, there appeared to be an
interdependent association between mutations upstream and within the PTPase
core motif, the core motif containing the majority of missense mutations,
and the involvement of all major organ systems (central nervous system,
thyroid, breast, skin and gastrointestinal tract). However, these
observations would need to be confirmed by studying a larger number of CD
families.
相似文献
48.
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment 总被引:4,自引:0,他引:4
The antenatal variant of Bartter's syndrome is an autosomal recessive
kidney disease characterized by polyhydramnios, premature delivery,
hypokalemic alkalosis and hypercalciuria. It is genetically heterogeneous,
having been linked recently to mutations in an ATP- sensitive, renal outer
medullary K+channel, ROMK, and earlier to mutations in the Na-K-2Cl
co-transporter, NKCC2. We characterized four of the mutations reported in
three heterozygous ROMK variants of antenatal Bartter's and found that each
expressed a distinct phenotype in Sf9 cells. One mutation expressed normal
function and appears to be an allelic polymorphism. The other three
mutations produced channels with significantly reduced K+fluxes. However,
the mechanisms in each case were different and reflected abnormalities in
phosphorylation, proteolytic processing or protein trafficking. The
different mechanisms may be important in the design of appropriate therapy
for patients with this disease.
相似文献
49.
Uterine myomata and outcome of assisted reproduction 总被引:5,自引:8,他引:5
Ramzy AM; Sattar M; Amin Y; Mansour RT; Serour GI; Aboulghar MA 《Human reproduction (Oxford, England)》1998,13(1):198-202
The aim of this work was to study the effect of uterine myomata on the
implantation rate and outcome in in-vitro fertilization (IVF) and
intracytoplasmic sperm injection (ICSI). Among 406 patients, 51 (12.6%)
were found to have uterine corporeal myomata. Twelve patients were excluded
from the study as they had large myomata, submucous myomata or intramural
myomata encroaching on the cavity. These patients were advised to have
myomectomy before being enrolled in the IVF/ICSI programme. The remaining
patients (n = 39) were sorted according to the number, site and size of the
myomata as assessed by transvaginal sonography. Three patients had more
than one myoma. Most of the myomata were subserous (72.7%) and the mean
diameter of the myomata was 3.5 +/- 0.9 cm. A control group (n = 367) was
chosen with normal uteri and no history of uterine reconstruction surgery.
The mean age of myoma patients was 34.7 +/- 3.6 years as compared to 34.0
+/- 4.4 years in the control group. The age, period of infertility, body
mass index, duration and number of human menopausal gonadotrophin ampoules
needed for stimulation, oestradiol levels, number of oocytes retrieved and
the fertilization rate were not significantly different in the myoma
patients compared to the control group. Fifteen myoma patients (38.5%)
subsequently showed one or more pregnancy sacs on ultrasonography of which
three (20%) spontaneously aborted during the first trimester and two
(13.3%) had preterm labour, as compared to 123 (33.5%), 19 (15.5%) and nine
(7.3%) respectively, among the control group (P = 0.27, 0.33 and 0.21). In
conclusion, uterine corporeal myomata, not encroaching on the cavity and
<7 cm in mean diameter, do not affect the implantation or miscarriage
rates in IVF or ICSI.
相似文献
50.