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排序方式: 共有419条查询结果,搜索用时 781 毫秒
1.
We report on a boy with severe growth and mental retardation, syndactyly of toes and facial anomalies. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression. 相似文献
2.
Suzena Masih Amita Moirangthem Shubha R. Phadke 《American journal of medical genetics. Part A》2020,182(2):293-295
Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent. 相似文献
3.
Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported. 相似文献
4.
A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant. 相似文献
5.
A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene. 相似文献
6.
Masato Tsukahara Kiyosato Matsuo Susumu Furukawa 《American journal of medical genetics. Part A》1995,58(2):159-160
We report on a 9-year-old boy with radioulnar synostosis, short stature, microcephaly, soliosis, and mental retardation. We propose that he has a new syndrome. © 1995 Wiley-Liss, Inc. 相似文献
7.
Claudine A. Kombila Koumavor Eric Elguero Eric M. Leroy 《Emerging infectious diseases》2021,27(2):672
Although Zika virus (ZIKV) circulates in sub-Saharan Africa, no case of ZIKV-associated microcephaly has thus far been reported. Here, we report evidence of a possible association between a 2007 outbreak of febrile illness and an increase in microcephaly and possibly ZIKV infection in Gabon. 相似文献
8.
Thai Leong Yap Shin Yee Hong Jun Hui Soh Lekha Ravichandraprabhu Vanessa W.X. Lim Hsi-Min Chan Tommy Z.X. Ong Ying Ping Chua Shi En Koh Huajing Wang Yee Sin Leo Jackie Y. Ying William Sun 《Emerging infectious diseases》2021,27(5):1427
Dengue virus (DENV) and Zika virus (ZIKV) belong to the Flaviviridae family of viruses spread by Aedes aegypti mosquitoes in tropical and subtropical areas. Accurate diagnostic tests to differentiate the 2 infections are necessary for patient management and disease control. Using characterized ZIKV and DENV patient plasma in a blind manner, we validated an ELISA and a rapid immunochromatographic test for ZIKV detection. We engineered the ZIKV nonstructural protein 1 (NS1) for sensitive serologic detection with low cross reactivity against dengue and developed monoclonal antibodies specific for the ZIKV NS1 antigen. As expected, the serologic assays performed better with convalescent than acute plasma samples; the sensitivity ranged from 71% to 88%, depending on the performance of individual tests (IgM/IgG/NS1). Although serologic tests were generally less sensitive with acute samples, our ZIKV NS1 antibodies were able to complement the serologic tests to achieve greater sensitivity for detecting early infections. 相似文献
9.
Mechanisms and possible controls of the in utero Zika virus infection: Where is the Holy Grail? 下载免费PDF全文
Zika virus infection (ZVI) is a great concern for human health because it frequently causes fetal anomalies. Little is known about pathophysiology of ZVI because it has been regarded as a mild, no life‐threatening infection. However, the latest endemic in South and Central America took attention of perinatologists, microbiologists, and pathologists. Both in vivo and in vitro studies suggest neurotropic nature of Zika virus but do not clarify viral kinetics during vertical transmissions. In this review, we focus on the clinical and microbiological natures ZVI for pregnant women especially how placental barriers are broken down. 相似文献
10.
Adriana Benavides-Lara María de la Paz Barboza-Arguello Mauricio Gonzlez-Elizondo Marcela Hernndez-deMezerville Helena Brenes-Chacn Melissa Ramírez-Rojas Catalina Ramírez-Hernndez Nereida Arjona-Ortegn Shana Godfred-Cato Diana Valencia Cynthia A. Moore Alejandra Soriano-Fallas 《Emerging infectious diseases》2021,27(2):360