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741.
Schell U; Wienberg J; Kohler A; Bray-Ward P; Ward DE; Wilson WG; Allen WP; Lebel RR; Sawyer JR; Campbell PL; Aughton DJ; Punnett HH; Lammer EJ; Kao FT; Ward DC; Muenke M 《Human molecular genetics》1996,5(2):223-229
Holoprosencephaly (HPE) is a common developmental defect involving the
brain and face in humans. Cytogenetic deletions in patients with HPE have
localized one of the HPE genes (HPE2) to the chromosomal region 2p21. Here
we report the molecular genetic characterization of nine HPE patients with
cytogenetic deletions or translocations involving 2p21. We have determined
the parental origin of the deleted chromosomes and defined the HPE2
critical region between D2S119 and D2S88/D2S391. As a first step towards
cloning the HPE2 gene which is crucial for normal brain development we have
constructed a YAC contig which spans the smallest region of deletion
overlap. Several of these YACs could be identified which span three
different 2p21 breakpoints in HPE patients. These YACs narrow the HPE2
critical region to less than 1 Mb and are now being further analyzed to
identify the gene causing holoprosencephaly on chromosome 2.
相似文献
742.
Using Tree-Based Recursive Partitioning Methods to Group Haplotypes for Increased Power in Association Studies 总被引:1,自引:0,他引:1
Motivated by the increasing availability of high‐density single nucleotide polymorphism (SNP) markers across the genome, various haplotype‐based methods have been developed for candidate gene association studies, and even for genome‐wide association studies. Although haplotype approaches dramatically reduce the multiple comparisons problem (as compared to single SNP analysis), even the number of existing haplotypes is relatively large, which increases the degrees of freedom and decreases the power for the corresponding test statistic. Grouping haplotypes is a way to reduce the degrees of freedom. We propose a procedure that uses a tree‐based recursive partitioning algorithm to group haplotypes into a small number of clusters, and conducts the association test based on groups of haplotypes instead of individual haplotypes. The method can be used for both population‐based and family‐based association studies, with known or ambiguous phase information. Simulation studies suggest that the proposed method has the right type I error rate, and is more powerful than some existing haplotype‐based tests. 相似文献
743.
744.
Schiebel K; Winkelmann M; Mertz A; Xu X; Page DC; Weil D; Petit C; Rappold GA 《Human molecular genetics》1997,6(11):1985-1989
XX males and XY females have a sex reversal disorder which can be caused by
an abnormal interchange between the X and the Y chromosomes. We have
isolated and characterized a novel gene on the Y chromosome, PRKY. This
gene is highly homologous to a previously isolated gene from Xp22.3, PRKX,
and represents a member of the cAMP-dependent serine threonine protein
kinase gene family. Abnormal interchange can occur anywhere on Xp/Yp
proximal to SRY. We can show that abnormal interchange happens particularly
frequently between PRKX and PRKY. In a collection of 26 XX males and four
XY females, between 27 and 35% of the interchanges take place between PRK
homologues but at different sites within the gene. PRKY and PRKX are
located far from the pseudoautosomal region where XY exchange normally
takes place. The unprecedented high sequence identity and identical
orientation of PRKY to its homologous partner on the X chromosome, PRKX,
explains the high frequency of abnormal pairing and subsequent ectopic
recombination, leading to XX males and XY females and to the highest rate
of recombination outside the pseudoautosomal region.
相似文献
745.
Targeted replacement of normal and mutant CFTR sequences in human airway epithelial cells using DNA fragments 总被引:5,自引:1,他引:5
Recent studies have reported that mutant genomic cystic fibrosis (CF)
transmembrane conductance regulator ( CFTR ) sequences can be corrected in
transformed CF airway epithelial cell lines by targeted replacement with
small fragments of DNA with wild-type sequence. To determine if the
observed genotype modification following small fragment homologous
replacement (SFHR) was limited to transformed CF cell lines, further
studies were carried out in both transformed and non-transformed primary
normal airway epithelial cells. The endogenous genotype of these normal
cell lines was modified following liposome or dendrimer transfection using
DNA fragments with DeltaF508 CFTR sequence (488 nt, complementary single
strands) designed to also contain a unique restriction enzyme cleavage site
(Xho I). Replacement at the appropriate genomic locus by exogenous
DeltaF508 CFTR DNA and its expression as mRNA was demonstrated by PCR
amplification of genomic DNA and mRNA-derived cDNA as well as Xho I
digestion of the PCR products. These studies show that SFHR occurs in both
transformed and non- transformed primary human airway epithelial cells and
indicate that single base substitution (the silent mutation giving rise to
the Xho I site) and deletion or insertion of at least three consecutive
bases can be achieved in both normal and CF epithelial cells. Furthermore,
these studies reiterate the potential of SFHR as a strategy for a number of
gene targeting applications, such as site-specific mutagenesis, development
of transgenic animals, development of isogenic cell lines and for gene
therapy.
相似文献
746.
MF van der Wal DC van den Boom H Pauw-Plomp GA de Jonge 《Archives of disease in childhood》1998,79(4):312-317
OBJECTIVES: To investigate the prevalence of infant crying and maternal soothing techniques in relation to ethnic origin and other sociodemographic variables. DESIGN: A questionnaire survey among mothers of 2-3 month old infants registered at six child health clinics in Amsterdam, the Netherlands. SUBJECTS: A questionnaire on sociodemographic characteristics and crying behaviour was completed for 1826 of 2180 (84%) infants invited with their parents to visit the child health clinics. A questionnaire on soothing techniques was also filled out at home for 1142 (63%) of these infants. RESULTS: Overall prevalences of "crying for three or more hours/24 hour day" "crying a lot", and "difficult to comfort" were 7.6%, 14.0%, and 10.3%, respectively. Problematic infant crying was reported by 20.3% of the mothers. Of these infants, only 14% met all three inclusion criteria. Problematic crying occurred less frequently among girls, second and later born children, Surinamese infants, and breast fed infants. Many mothers used soothing techniques that could affect their infant's health negatively. Shaking, slapping, and putting the baby to sleep in a prone position were more common among non-Dutch (especially Turkish) mothers than among Dutch mothers. Poorly educated mothers slapped their baby more often than highly educated mothers. CONCLUSIONS: Mothers' reports of infant crying and soothing varied sociodemographically. Much harm may be prevented by counselling parents (especially immigrants) on how and how not to respond to infant crying. Health education should start before the child's birth, because certain soothing techniques could be fatal, even when practised for the first time. 相似文献
747.
748.
749.
DC Solis N Burnichon HJLM Timmers MJ Raygada A Kozupa MJ Merino D Makey KT Adams A Venisse A-P Gimenez-Roqueplo and K Pacak 《Clinical genetics》2009,75(4):354-363
Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are rarely described. The objective was to describe the phenotype and estimate the penetrance of an exon 1 large SDHB deletion in one kindred. A retrospective and prospective study of 41 relatives across five generations was carried out. The main outcome measures were genetic testing, clinical presentations, plasma catecholamines and their O -methylated metabolites. Of the 41 mutation carriers identified, 11 were diagnosed with PGL, 12 were found to be healthy carriers after evaluation, and 18 were reportedly healthy based on family history accounts. The penetrance of PGL related to the exon 1 large SDHB deletion in this family was estimated to be 35% by age 40. Variable expressivity of the phenotype associated with a large exon 1 SDHB deletion was observed, including low penetrance, diverse primary PGL tumor locations, and malignant potential. 相似文献
750.