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61.
62.
目的探讨脐带穿刺在胎儿先天性心脏病诊疗中的应用价值。方法对34例行脐带穿刺的胎儿先天性心脏病例进行回顾性分析。结果34例均穿刺成功,未发生严重并发症。检出染色体异常6例,宫内巨细胞病毒感染1例。结论脐带穿刺术是一种安全有效改善妊娠结局的产前诊疗技术。 相似文献
63.
Theodore G. Drivas Jesse A. Taylor Elaine H. Zackai 《American journal of medical genetics. Part A》2019,179(6):1063-1068
We evaluated a newborn with acrofacial dysostosis in whom a clinical diagnosis of Nager syndrome was entertained. Radiographs revealed hypoplasia of the scapulae and bilateral humeroradial synostosis, with absent ulna on the left and hypoplastic ulna on the right. The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses. Humeroradial synostosis has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by mandibular hypoplasia, upper and lower extremity phocomelia, and oligodactyly of the upper limbs. More recently, haploinsufficiency of the SF3B4 gene has been identified as the cause of both Nager and Rodriguez syndrome, leading many to believe that Rodriguez syndrome represents a more severe end of a Nager syndrome spectrum. An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. Rodriguez syndrome was previously thought of as a lethal acrofacial dysostosis distinct from Nager syndrome. A number of more mild cases, as well as our case, intermediate between the two phenotypes, illustrate that Rodriguez syndrome is a severe manifestation of Nager syndrome, and is not lethal with aggressive medical care. 相似文献
64.
为了解先天性肾上腺皮质增生症患者的21-羟化酶CYP21B基因中Ile~(172)→Asn错义突变的发生率,根据放大受阻突变体系(Amplificationrefractorymutationsystem,ARMS)的要求,设计了3种引物:5'd(TTGGGAGACTACTCCCTGCTCT)3'(共同引物)、5'd(AGGTGAGGTAACAGA)3'(正常引物)、5'd(AGGTGAGGTAACAGT)3'(突变引物),在7例患儿中进行了检测,发现具有本突变者3例。对其中一例进行的家系分析,结果提示:这组引物有快速、简便的优点,不需使用同位素就能对具有Ile~(172)→Asn变异的高危家庭成员作产前诊断。 相似文献
65.
大连地区35068例围产儿中先天性心脏病的调查 总被引:1,自引:1,他引:1
目的为了解我院围产儿先天性心脏病发病情况.方法对2000年1月~2003年12月大连市妇幼保健院分娩的围产儿35068例进行前瞻性调查.结果查出先心病487例,其中彩色多普勒超声心动图诊断467例,尸检确诊20例.发病率13.9‰.以单纯性室间隔缺损(VSD)20.95%和房间隔缺损(ASD)18.07%居多,其中又以.膜部VSD和Ⅱ孔型ASD最多.复合型畸形占41.68%,以ASD VSD(12.73%)居多.出生~7d发生心力衰竭59例.围产儿死亡52例,死亡率1.48‰,占1岁以内先心病死亡总数的67.53%.以青紫型复杂畸形为主.结论先心病的发生与母亲早期呼吸道病毒感染有关(χ2=20.98,P<0.01,相对危险度5.99).PDA的发生与早产儿密切相关(χ2=29.1,P<0.01,相对危险度5.01). 相似文献
66.
《European journal of medical genetics》2021,64(12):104369
Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent of massive parallel sequencing technology, there is a need for investigating its utility in screening extended panel of genes implicated in CAH. In this study, we have established and utilized an Allele-Specific Polymerase Chain Reaction (ASPCR) based approach for screening eight common mutations in CYP21A2 gene followed by targeted Next Generation Sequencing (NGS) of CYP21A2, CYP11B1, CYP17A1, POR, and CYP19A1 genes in 72 clinically diagnosed CAH subjects from India. Through these investigations, 88.7% of the subjects with 21 hydroxylase deficiency were positive for eight CYP21A2 mutations with ASPCR. The targeted NGS assay was sensitive to pick up all the mutations identified by ASPCR. Utilizing NGS in subjects negative for ASPCR, five study subjects were homozygous positive for other CYP21A2 variants: one with a novel c.1274G>T, three with c.1451G>C and one with c.143A>G variant. One subject was compound heterozygous for c.955C>T and c.1042G>A variants identified using ASPCR and NGS. One subject suspected for a Simple Virilizing (SV) 21 hydroxylase deficiency was positive for a CYP19A1:c.1142A>T variant. CYP11B1 variants (c.1201-1G>A, c.1200+1del, c.412C>T, c.1024C>T, c.1012dup, c.623G>A) were identified in all six subjects suspected for 11 beta-hydroxylase deficiency. The overall mutation positivity was 97.2%. Our results suggest that ASPCR followed by targeted NGS is a cost-effective and comprehensive strategy for screening common CYP21A2 mutations and the CAH panel of genes in a clinical setting. 相似文献
67.
Dermatoglyphic findings were compared in 42 patients (32 females, 10 males) with Congenital Adrenal Hyperplasia (CAH) and 110 normal controls (70 females, 40 males). In CAH males, an excess of whorls (p less than 0.001), an increased total finger ridge count (p less than 0.05), and an increased frequency of patterns in the fourth interdigital area (p less than 0.025) was found. A main line A terminating high in the hypothenar area (p less than 0.05), and a missing c-triradius or an abortive main line C (p less than 0.05) was observed in CAH females. Both sexes displayed an increase in the frequency of small radially directed hypothenar patterns (p less than 0.05) and sydney lines (p less than 0.01). 相似文献
68.
Trisomy 6qter 总被引:2,自引:0,他引:2
A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood. 相似文献
69.
Margaret O''Dougherty Gary G. Berntson Sarah T. Boysen Francis S. Wright Douglas Teske 《Psychophysiology》1988,25(3):305-315
Cardiac responses to non-signal stimuli and to signal stimuli in a vigilance task were examined in children born with congenital heart defects (CHD), and in normal and attention deficit disordered (ADD) subjects. Overall task performance was lower in subjects with heart defects and in the ADD group. Cardiac measures revealed that normal children displayed significantly larger heart rate deceleration to the target stimuli than did either of the clinical groups. Moreover, although no group differences were observed in the cardiac response to non-signal auditory stimuli, exaggerated heart rate deceleration was observed to vibrotactile stimuli in both the clinical groups. Regression analyses revealed that the magnitude of the cardiac response to somatosensory stimuli was predictive of task performance (both within and between subject groups), with larger responses associated with higher error rates and lower perceptual sensitivity. Results were suggestive of a predictive relationship between somatosensory reactivity and neuropsychological maturation. 相似文献
70.
VRK1 is a novel human putative serine/threonine kinase, and is located on chromosome 14 at band q32 where an autosomal recessive
congenital microphthalmia (CMIC) is mapped. We isolated a polymorphic dinucleotide CA repeat marker from a genomic clone containing
the human VRK1 gene. This polymorphism will be useful in genetic studies of disorders localized at the 14q32 region, such as CMIC.
Received: October 8, 1998 / Accepted: October 16, 1998 相似文献