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排序方式: 共有343条查询结果,搜索用时 15 毫秒
1.
We describe a novel alpha-thalassaemia-1 deletion that removes the entire zeta-alpha globin gene cluster. A Chinese couple were referred for counselling after two consecutive pregnancies ended with fetal hydrops. Gene mapping was used to demonstrate that the mother is heterozygous for the South-east Asia alpha-thalassaemia-1 deletion (zeta zeta zeta alpha alpha/zeta zeta--SEA), while the father carries an alpha-thalassaemia-1 deletion of more than 100 kilobases (zeta zeta alpha alpha/----). This newly discovered deletion extends for unknown distances 3' and 5' of the zeta-alpha globin gene cluster and has been designated (--HW). 相似文献
2.
A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization 总被引:1,自引:0,他引:1
J. Koch S. Kølvraa N. Hobolt G. B. Petersen H. F. Willard J. S. Waye N. Gregersen L. Bolund 《Clinical genetics》1990,37(3):216-220
A small marker chromosome was identified as an X-derived ring chromosome by in situ hybridization with a biotinylated X-chromosome specific a-satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding. 相似文献
3.
Lisa M. Nakamura Barry Eng Forbes D. Porter John S. Waye 《American journal of medical genetics. Part A》2001,102(4):383-386
Smith‐Lemli‐Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3β‐hydroxysterol‐Δ7‐reductase (DHCR7). SLOS is thought to be most common among European Caucasians, with an incidence of 1 in 20,000 to 1 in 30,000 births. To define the carrier rate and ethnic distribution of SLOS, we screened DNA samples from 2,978 unrelated individuals for the most common SLOS mutation (IVS8‐1G→C). Twenty‐four heterozygotes of the IVS8‐1G→C mutation were detected in 2,978 individuals of European Caucasian and Black backgrounds. For European Caucasians, the carrier rate for SLOS may be as high as 1 in 30, suggesting an incidence of 1 in 1,700 to 1 in 13,400. This high number is supported by the recent observation of newborn and prenatal incidence of 1 in 22,000 in the Caucasian population. Ours is the first report of the IVS8‐1G→C mutation in persons of African ancestry. Published 2001 Wiley‐Liss, Inc. 相似文献
4.
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome 总被引:1,自引:0,他引:1
5.
Richard D. W. Hain David Chitayat Robert Cooper Elizabeth Bandler Barry Eng David H. K. Chui John S. Waye Melvin H. Freedman 《Human mutation》1994,3(3):239-242
We describe a normal neonate who presented at four days of age with asymptomatic cyanosis. There was no evidence of cardiac or pulmonary abnormality and an extended family history included 13 other affected family members with asymptomatic cyanosis lasting one to three months. Polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of the proband's Gγ chain gene revealed the mutation at codon 92 (CAC→TAC) previously shown in haemoglobin FM-Fort Ripley (α2γ2Gγ 92 (F8) His→Tyr). This is the first family with Hb FM-Fort Ripley reported so far. It demonstrates autosomal dominant inheritance of this condition and incomplete penetrance. © 1994 Wiley-Liss, Inc. 相似文献
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8.
Janice L. Y. Mong Maggie C. Y. Ng Georgia S. Guldan Claudia H. T. Tam Heung Man Lee Ronald C. W. Ma Wing Yee So Gary W. K. Wong Alice P. S. Kong Juliana C. N. Chan Mary M. Y. Waye 《Clinical endocrinology》2010,73(3):313-322
Objective: To explore the genetic effect of the GH receptor (GHR) on obesity and related metabolic parameters in Hong Kong Chinese adolescents. Context: Obesity is a growing global epidemic. Increasing evidence suggests that the GH‐IGF‐I axis plays an important role in regulating adiposity and insulin sensitivity. Design: We examined the associations of genetic variants of GHR with serum IGF‐I and IGFBP‐3 levels as well as obesity‐related metabolic traits in Hong Kong Chinese adolescents. Patients: Nine hundred and eighty‐one randomly selected Hong Kong Chinese adolescents from 14 schools. Measurements: We genotyped 17 single nucleotide polymorphisms (SNP) at GHR and measured serum IGF‐I and IGFBP‐3 levels as well as obesity‐related metabolic traits including fasting plasma glucose, insulin and lipid levels. Results: There were significant associations between rs4410646 and the body composition (P = 0·0044) and blood pressure factor scores (P = 0·00017). Carriers of the CC genotype had lower body mass index, percentage body fat, waist and hip circumferences than AC and AA genotype carriers (P = 0·00030–0·0094). There was also association between rs7703713 and the IGF‐I activity factor score (P = 0·0033). The GA and AA carriers of rs7703713 had higher serum IGF‐I, higher serum IGFBP‐3 and higher IGF‐I/IGFBP‐3 molar ratio (P = 0·00069–0·025). Haplotype analysis did not increase the significance of associations. Conclusion: Our results support the role of GHR gene polymorphisms in modulating adiposity and IGF‐I activity in adolescents. Examination of interactions of these SNPs with lifestyle, environmental and perinatal factors may provide further insights into their long‐term effects on obesity and metabolic risks. 相似文献
9.
K F Leung W Y Au A Y Chan L C Chan J S Waye D H Chui S K Ma 《Clinical and laboratory haematology》2001,23(1):53-55
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is described. The Hb Q-Thailand mutation was found on the remaining alpha1 globin gene on a chromosome 16 containing the (-alpha 4.2) deletion. Active haemolysis in members of this family is segregated with the HS phenotype, and the Hb Q-Thailand in the heterozygous state does not seem to show any modulating effect on HS. 相似文献
10.
W Tang H Y Luo M Albitar M Patterson B Eng J S Waye S A Liebhaber D R Higgs D H Chui 《Blood》1992,80(2):517-522
zeta-Globin chain expression in carriers of a number of deletional alpha-thalassemias is investigated by radioimmunoassay. In a few cases, zeta-globin mRNAs are also studied. zeta-Globin chains are detected in (--SEA/), (--MED/), and (--SPAN/) deletions, but not in six other deletional mutations. These results suggest that the DNA element capable of suppressing zeta-globin expression in adult erythroid cells is present within the (--SPAN/) deletion, while the DNA fragment between the 5' breakpoints of the (--SA/) and the (--SEA/) deletions may contain sequences necessary for augmenting zeta-globin expression in adult erythroid cells. Furthermore, zeta-globin chains are shown by an immunocytologic technique to be present in all circulating erythrocytes in carriers of the (--SEA/) and (--MED/) deletions. This simple immunocytologic test is highly sensitive and specific to detect adult carriers of either the (--SEA/) or (--MED/) deletions, and can be used for the detection of couples at risk of pregnancies involving fetuses with homozygous alpha-thalassemia. 相似文献