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31.
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 总被引:2,自引:0,他引:2
Ute Moog Eric E J Smeets Kees E P van Roozendaal Sam Schoenmakers Jos Herbergs Anneke M J Schoonbrood-Lenssen Connie T R M Schrander-Stumpel 《European journal of paediatric neurology》2003,7(1):5-12
Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed. 相似文献
32.
Elevated expression of carcinoembryonic antigen-related cell adhesion molecule 1 promotes progression of non-small cell lung cancer. 总被引:7,自引:0,他引:7
Wulf Sienel Sebastian Dango Ute Woelfle Alicia Morresi-Hauf Christoph Wagener Jens Brümmer Wolf Mutschler Bernward Passlick Klaus Pantel 《Clinical cancer research》2003,9(6):2260-2266
PURPOSE: Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM-1) has recently been implicated in cancer development and progression. This study was performed to assess whether CEACAM-1 expression in primary tumors is correlated to long-term survival in patients with operable non-small cell lung cancer (NSCLC). EXPERIMENTAL DESIGN: Primary tumors of 145 consecutive patients with completely resected NSCLC (pT(1-4) pN(0-2) M(0) R(0)) were stained immunohistochemically using the monoclonal anti-CEACAM-1 antibody 4D1/C2. The prognostic relevance of CEACAM-1 expression was evaluated by univariate Kaplan-Meier and multivariate Cox regression analysis. The median follow-up period was 72 months (range, 10-130 months). RESULTS: Normal bronchiolar epithelium present in all sections exhibited no immunostaining. In contrast, 73 tumors (50.4%) showed between 1 and 66% CEACAM-1 positive tumor cells, and 72 tumors (49.6%) exhibited even a higher percentage of positive tumor cells. A high CEACAM-1 expression rate (i.e., >/=66% positive tumor cells) was more frequent in adenocarcinomas than in squamous cell carcinomas (61.9 versus 35.7%, respectively). Multivariate Cox regression analysis demonstrated that CEACAM-1 represents an independent prognosticator for cancer-related survival (P = 0.018; relative risk, 1.8; 95% confidence interval, 1.1-2.8). Subgroup analysis revealed that a high CEACAM-1 expression rate was of significant prognostic impact in pN(1)-pN(2) patients (n = 60; P = 0.024), pT(3)-pT(4) patients (n = 22; P = 0.009), and stage IIa-IIIa patients (n = 69; P = 0.012). CONCLUSIONS: The absence of CEACAM-1 in normal lung tissue and its expression in tumor cells argues against a tumor-suppressive role of CEACAM-1 in NSCLC. The correlation between elevated CEACAM-1 expression and an unfavorable prognosis indicates rather that CEACAM-1 might promote lung cancer progression. 相似文献
33.
Datenschutz innerhalb des länderübergreifenden Deutschen Zentralregisters für kindliche Hörstörungen
Zusammenfassung
Das Deutsche Zentralregister für kindliche H?rst?rungen (DZH) verarbeitet bundesweit Daten von verschiedenen audiologischen
Einrichtungen. Die Bew?ltigung der anfallenden Datenmengen, die nachfolgende Datenverwaltung und -analyse erfordern neben
einer differenzierten und kontrollierbaren Verarbeitung ein H?chstma? an Datensicherheit. Vor allem die l?nderübergreifende
Struktur eines Registers erfordert schon bei der Planung engste Zusammenarbeit mit dem zust?ndigen Landesdatenschutzbeauftragten
und auch mit den Landesdatenschutzbeauftragten anderer beteiligter Bundesl?nder. Am Beispiel des DZH wird demonstriert, wie
eine kooperative Zusammenarbeit pragmatisch realisiert werden kann. Besonderheiten bei der Datenerhebung, Datentransfer, Speicherung
und L?schung von Daten, technische Datenschutzma?nahmen, Sicherstellung von Anonymit?t durch Codierungsstrategien, Duplikatsprüfung,
Datentrennung und automatisierte Datenauswertung werden an Beispielen erl?utert.
Eingegangen am 13. August 1997 Angenommen am 18. Dezember 1997 相似文献
34.
Ute Finckh-Krämer Maria-Elisabeth Spormann-Lagodzinski K. Nubel M. Hess M. Gross 《HNO》1998,46(6):598-602
Zusammenfassung
Das Deutsche Zentralregister (DZH) für kindliche H?rst?rungen hat seit 1994 Patientendatens?tze von 1500 Kindern erfa?t und
kann mittlerweile u.a. Aussagen und Ergebnisse zum Diagnosezeitpunkt persistierender kindlicher H?rst?rungen in der Bundesrepublik
Deutschland vorlegen. Nach wie vor ist das mittlere Alter bei der Diagnose persistierender kindlicher H?rst?rungen sehr hoch.
Das Diagnosealter korreliert stark mit dem Grad der H?rst?rung, d.h. an Taubheit grenzende und hochgradige H?rst?rungen werden
deutlich früher diagnostiziert als leichte und mittlere. So werden leichte H?rst?rungen im Durchschnitt erst mit 6;2 Jahren
diagnostiziert, mittlere mit 4;4 Jahren, hochgradige mit 2;5 Jahren und an Taubheit grenzende mit 1;9 Jahren. Dies entspricht
den Ergebnissen bereits vorliegender regionaler deutscher Studien [1–2]. Aus anderen europ?ischen L?nderen sind zumindest
regional deutlich frühere Diagnosezeitpunkte bekannt [3–5]. Bei 36% der im DZH erfa?ten Kinder liegt zwischen dem ersten Verdacht
auf Vorliegen einer persistierenden kindlichen H?rst?rung und der Sicherstellung der Diagnose ein Jahr und mehr.
Eingegangen am 23. Dezember 1997 Angenommen am 16. April 1998 相似文献
35.
36.
37.
Richard Kitz Ute Martens Egmont Zieseniß Paul Enck Markus A. Rose 《Central European Journal of Medicine》2012,7(3):362-365
Sinusitis is a frequent complication of respiratory tract infections. Probiotics are perceived to be useful in infections,
allergies, and inflammations. Our prospective trial stratified 204 children with recurrent rhinosinusitis by age (2–11 years,
54m:64f; 12–18 years, 39m:47f) and assigned them to standard treatment (antibiotics, anticongestants) or additional 60 days
Symbioflor-1 (SF1; Enterococcus faecalis 1.5–4.5x107 CFU). The number of sinusitis episodes was lower in SF1-treated patients (2.52±0.91) than among controls (3.27±1.36; p=0.01).
Mean duration of the first sinusitis episode was 11.9±8.6 days with SF1, whereas it was 16.1±12.9 days in the younger controls
(p=0.023) and 9.86±5.05 days in the elder controls (n.s.). Duration of subsequent sinusitis episodes was also shorter in SF1
patients (15.2±13.6 days) compared with controls (22.7±14.8 days; p=0.030). No adverse events were observed. Probiotic Enterococcus
faecalis adjuvant to conventional therapy can reduce the number and duration of rhinosinusitis episodes in children and adolescents. 相似文献
38.
39.
Ute Schuppler Felicitas Planas-Bohne David M. Taylor 《International journal of radiation biology》2013,89(3):457-466
SummaryFollowing intravenous injection into male Sprague–Dawley rats 233Pa, like other elements, deposits predominantly in the skeleton (ca. 70–80 per cent), but unlike Pu and Am the liver deposition of 233Pa is low, about 2–3 per cent between 1 and 7 days. About 99 per cent of the injected 233Pa is lost from the plasma compartment in 3 days, a clearance comparable to that of Pu but much slower than that of Np, Am or Cm. On entering the liver cell cytosol 233Pa is bound rapidly to an unidentified protein of molecular mass 200 kDa and to a protein of 80 kDa, which is probably transferrin. Within a few hours the metal migrates to bind to a protein of > 400 kDa which has been tentatively identified as ferritin. Some 233Pa remains bound to small ligands until virtually all the intracellular 233Pa has been deposited in the lysosomes, or to a lesser extent in some other, as yet, unidentified organelles. 相似文献
40.
Right heart function in impaired left ventricular diastolic function: 2D speckle tracking echocardiography–based and Doppler tissue imaging–based analysis of right atrial and ventricular function
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Anna Brand MD Marny Bathe Sabine Oertelt‐Prigione MScPH Ute Seeland MD Mirjam Rücke MSc Vera Regitz‐Zagrosek MD Karl Stangl MD Fabian Knebel MD Verena Stangl MD Henryk Dreger MD 《Echocardiography (Mount Kisco, N.Y.)》2018,35(1):47-55