全文获取类型
收费全文 | 2793篇 |
免费 | 147篇 |
国内免费 | 22篇 |
专业分类
耳鼻咽喉 | 77篇 |
儿科学 | 366篇 |
妇产科学 | 229篇 |
基础医学 | 760篇 |
口腔科学 | 127篇 |
临床医学 | 179篇 |
内科学 | 273篇 |
皮肤病学 | 37篇 |
神经病学 | 100篇 |
特种医学 | 199篇 |
外科学 | 330篇 |
综合类 | 87篇 |
预防医学 | 65篇 |
眼科学 | 49篇 |
药学 | 46篇 |
中国医学 | 4篇 |
肿瘤学 | 34篇 |
出版年
2024年 | 4篇 |
2023年 | 59篇 |
2022年 | 63篇 |
2021年 | 64篇 |
2020年 | 89篇 |
2019年 | 84篇 |
2018年 | 95篇 |
2017年 | 87篇 |
2016年 | 74篇 |
2015年 | 77篇 |
2014年 | 136篇 |
2013年 | 140篇 |
2012年 | 66篇 |
2011年 | 105篇 |
2010年 | 86篇 |
2009年 | 96篇 |
2008年 | 103篇 |
2007年 | 106篇 |
2006年 | 106篇 |
2005年 | 79篇 |
2004年 | 69篇 |
2003年 | 62篇 |
2002年 | 53篇 |
2001年 | 47篇 |
2000年 | 50篇 |
1999年 | 48篇 |
1998年 | 58篇 |
1997年 | 65篇 |
1996年 | 62篇 |
1995年 | 58篇 |
1994年 | 44篇 |
1993年 | 58篇 |
1992年 | 72篇 |
1991年 | 50篇 |
1990年 | 28篇 |
1989年 | 27篇 |
1988年 | 37篇 |
1987年 | 35篇 |
1986年 | 28篇 |
1985年 | 37篇 |
1984年 | 45篇 |
1983年 | 22篇 |
1982年 | 44篇 |
1981年 | 36篇 |
1980年 | 31篇 |
1979年 | 24篇 |
1978年 | 13篇 |
1977年 | 17篇 |
1976年 | 10篇 |
1975年 | 4篇 |
排序方式: 共有2962条查询结果,搜索用时 15 毫秒
31.
Familial partial trisomy 5p resulting from segregation of an insertional translocation 总被引:1,自引:0,他引:1
A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies. 相似文献
32.
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis 总被引:10,自引:0,他引:10
Albert de La Chapelle Eeva-Marja Sankila Mikael Lindlöf Pertti Aula Reuo Norio 《Clinical genetics》1985,28(4):317-320
Carrier determination and prenatal diagnosis in Norrie disease (ND) has so far not been reported. We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X chromosome defined by probe L1.28 causes the disorder. This allowed us to predict via chorion villus biopsy that a male foetus of a carrier woman is unaffected. 相似文献
33.
Review of tethered cord syndrome with a radiological and anatomical study: Case report 总被引:1,自引:0,他引:1
LGF Giles 《Surgical and radiologic anatomy : SRA》1991,13(4):339-343
Summary The primary tethered cord syndrome has been documented mainly in children and adolescents but also in adults, and patients may present with backache, neuromuscular skeletal changes such as club-foot, scoliosis, muscular atrophy, disturbances of gait, or dysfunction of bladder and rectum, or a combination of these conditions. The cadaveric case presented describes plain film radiographic and anatomical findings of spina bifida occulta at the first and second sacral levels, and an enlarged spinous process of the fifth lumbar vertebra, in a 78 year old male cadaver with a tethered spinal cord terminating at the first sacral level. During life, this man had not undergone surgery for tethered spinal cord.
Revue du syndrome de moelle attachée: étude radiologique et anatomique à propos d'un cas
Résumé Le syndrome de moelle attachée primaire a souvent été décrit chez l'enfant et l'adolescent mais aussi chez l'adulte, les patients pouvant se présenter avec des douleurs du dos, des modifications neuro-musculaires et squelettiques comme un pied bot, une scoliose, une atrophie musculaire, des anomalies de la marche, des dysfonctionnements de la vessie et/ou du rectum, ou une combinaison de ces différents symptômes. L'observation rapportée ici est l'étude anatomique et radiologique d'un spina bifida oculta des première et deuxième vertèbres sacrées associé à l'élargissement du processus épineux de la cinquième vertèbre lombaire chez un cadavre mâle de 78 ans ayant une moelle épinière attachée au niveau de la première vertèbre sacrée. Durant sa vie ce patient n'avait pas subi de chirurgie pour cette moelle attachée.相似文献
34.
35.
Hao Wang Ingeborg Barisic Maria Loane Marie‐Claude Addor Linda M. Bailey Miriam Gatt Kari Klungsoyr Olatz Mokoroa Vera Nelen Amanda J. Neville Mary O'Mahony Anna Pierini Anke Rissmann Christine Verellen‐Dumoulin Hermien E.K. de Walle Awi Wiesel Katarzyna Wisniewska Lolkje T.W. de Jong‐van den Berg Helen Dolk Babak Khoshnood Ester Garne 《American journal of medical genetics. Part A》2019,179(4):595-601
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995–2011. Cases without chromosomal anomalies born during 2005–2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10–1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05–1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90–0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population‐based study found a decreasing trend of congenital clubfoot in Europe after 1999–2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT. 相似文献
36.
A patient who presented with most features of lacrimo-auriculo-dento-digital (LADD) syndrome, an autosomal dominant trait, is described. There was no deafness, and anomalies of the external ear and the upper limbs were discrete. Renal anomalies, consisting of progressive caliectasis with stone formation, were revealed by macroscopic hematuria. There were also skeletal anomalies of both feet, a feature not previously described. Renal and distal limb anomalies are probably features of LADD syndrome. 相似文献
37.
Mitsuo Masuno Jun-Ichi Asano Kanji Yasuda Tomio Kondo Tadao Orii 《American journal of medical genetics. Part A》1993,45(1):65-67
We report on a 19-month-old girl with a derivative chromosome 9 and a recombinant chromosome 12 resulting from a maternal balanced complex rearrangement involving chromosomes 8, 9, and 12. The karyotype of the phenotypically normal mother was 46,XX,t(8;12) (9;12) (8qter→8p23::12q12→12q15::9q32→9qter;9pter→9q32::12q15→12qter;12pter→12q12::8p23→8pter). The child's karyotype was 46,XX,?9,?12, +der(9) (9pter→9q32::12q15→12qter),+rec(12) (12pter→12q15::9q32→9qter) mat. The child had severe growth retardation, minor anomalies including trigonocephaly, hypertelorism, broad nasal root, apparently low-set and posteriorly angulated ears, triangular face, pectus carinatum, clinodactyly of fifth fingers, and almost normal psychomotor development. To the best of our knowledge, there have been only 3 previous reports of recombination derived from parental complex chromosome rearrangements. In the recombination products, the chromosomes were apparently balanced and the offspring had no clinical abnormalities. The present case exhibited abnormalities and may have a submicroscopic aberration of 12q arising from crossing over during maternal meiotic pairing, although her chromosomes appeared to be balanced. © 1993 Wiley-Liss, Inc. 相似文献
38.
Kok K Dijkhuizen T Swart YE Zorgdrager H van der Vlies P Fehrmann R te Meerman GJ Gerssen-Schoorl KB van Essen T Sikkema-Raddatz B Buys CH 《European journal of medical genetics》2005,48(3):250-CGH
In 2-8% of patients with mental retardation, small copy number changes in the subtelomeric region are thought to be the underlying cause. As detection of these genomic rearrangements is labour intensive using FISH, we constructed and validated a high-density BAC/PAC array covering the first 5 Mb of all subtelomeric regions and applied it in our routine screening of patients with idiopathic mental retardation for submicroscopic telomeric rearrangements. The present study shows the efficiency of this comprehensive subtelomere array in detecting terminal deletions and duplications but also small interstitial subtelomeric rearrangements, starting from small amounts of DNA. With our array, the size of the affected segments, at least those smaller than 5 Mb, can be determined simultaneously in the same experiment. In the first 100 patient samples analysed in our diagnostic practice by the use of this comprehensive telomere array, we found three patients with deletions in 3p, 10q and 15q, respectively, four patients with duplications in 9p, 12p, 21q and Xp, respectively, and one patient with a del 6q/dup 16q. The patients with del 3p and 10q and dup 12p had interstitial rearrangements that would have been missed with techniques using one probe per subtelomeric region chosen close to the telomere. 相似文献
39.
Madeleine R. MacDonald G. Bradley Schaefer Ann Haskins Olney Donna F. Patton 《American journal of medical genetics. Part A》1994,50(1):46-50
Thrombocytopenia with absent radius (TAR) syndrome is infrequently (7%) associated with mental retardation. In those cases, the mental deficiency is presumed to be a consequence of intracranial hemorrhage due to the thrombo-cytopenia. We report on 2 infants with TAR syndrome. One had developmental delay with evidence of cerebral dysgenesis by magnetic resonance imaging (MRI). Such findings have not been noted in the literature, but may not have been investigated in most cases. The other infant with TAR syndrome, who has had normal psychomotor development, has a normal brain on MRI scan. Detailed neuroimaging studies, preferably MRI, should be considered in the evaluation of patients with TAR syndrome, especially when there are documented signs of developmental delay, with or without a history of intracranial hemorrhage. © 1994 Wiley-Liss, Inc. 相似文献
40.