全文获取类型
收费全文 | 1065篇 |
免费 | 22篇 |
国内免费 | 46篇 |
专业分类
安全科学 | 32篇 |
废物处理 | 20篇 |
环保管理 | 13篇 |
综合类 | 942篇 |
基础理论 | 66篇 |
污染及防治 | 30篇 |
评价与监测 | 13篇 |
社会与环境 | 12篇 |
灾害及防治 | 5篇 |
出版年
2023年 | 4篇 |
2022年 | 3篇 |
2021年 | 12篇 |
2020年 | 8篇 |
2019年 | 8篇 |
2018年 | 10篇 |
2017年 | 10篇 |
2016年 | 7篇 |
2015年 | 6篇 |
2014年 | 4篇 |
2013年 | 33篇 |
2012年 | 19篇 |
2011年 | 56篇 |
2010年 | 57篇 |
2009年 | 52篇 |
2008年 | 43篇 |
2007年 | 62篇 |
2006年 | 71篇 |
2005年 | 86篇 |
2004年 | 72篇 |
2003年 | 67篇 |
2002年 | 90篇 |
2001年 | 54篇 |
2000年 | 11篇 |
1999年 | 6篇 |
1998年 | 2篇 |
1997年 | 3篇 |
1996年 | 7篇 |
1995年 | 39篇 |
1994年 | 55篇 |
1993年 | 25篇 |
1992年 | 16篇 |
1991年 | 28篇 |
1990年 | 13篇 |
1989年 | 14篇 |
1988年 | 17篇 |
1987年 | 14篇 |
1986年 | 6篇 |
1985年 | 16篇 |
1984年 | 14篇 |
1983年 | 4篇 |
1982年 | 4篇 |
1981年 | 5篇 |
排序方式: 共有1133条查询结果,搜索用时 15 毫秒
991.
992.
Congenital nephrotic syndrome of the Finnish type (CNF) and diffuse mesangial sclerosis (DMS) are rare causes of renal failure in infants. We report two cases, one of each condition, presenting with increased nuchal translucency at the 11–14-week scan, and review the literature. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
993.
994.
995.
996.
Alfredo Nazzaro Matteo Della Monica Fortunato Lonardo Arturo Di Blasi Maria Baffico Maurizia Baldi Giovanni Nazzaro Giuseppe De Placido Gioacchino Scarano 《黑龙江环境通报》2004,24(11):918-922
Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G → C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
997.
Pascal Gaucherand Chantal Vavasseur-Monot Elizabeth Ollagnon Catherine Boisson Jean-Marc Labaune Thierry Basset George Yared 《黑龙江环境通报》2002,22(11):1048-1050
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
998.
We diagnosed a pure partial trisomy of the long arm of chromosome 1 in a fetus with multiple malformations detected prenatally. The father was a carrier of a balanced rearrangement involving 46,XY,inv(1)(qter→p36::q32→qter::p36→q32). The fetus had preaxial polydactyly, low-set ears, macrocephaly, a prominent forehead, a broad and flat nasal bridge, a small mouth, an arched palate, micrognathia and unilateral renal agenesis. The couple had previously an infant with the same phenotypic abnormalities. The aberration was initially detected on amniocentesis with GTG banding and was confirmed by fluorescence in situ hybridization (FISH). Our case and other published pure trisomy 1q32-44 cases showed similarities, which allowed the further delineation of the trisomy 1q syndrome. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
999.
Robert Wallerstein Tracey Oh Judy Durcan Yaakov Abdelhak Mark Clachko Hana Aviv 《黑龙江环境通报》2002,22(8):722-724
We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
1000.