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991.
Natasha Darras Thoa K. Ha Shannon Rego Pierre‐Marie Martin Eva Barroso Anne M. Slavotinek Maria R. Cilio 《American journal of medical genetics. Part A》2019,179(11):2190-2195
Developmental and epileptic encephalopathies are genetic disorders in which both the developmental disability and the frequent epileptic activity are the effect of a specific gene variant. While heterozygous variants in SCN1B have been described in families with generalized epilepsy with febrile seizures plus, Type 1, only three cases of homozygous, missense variants in SCN1B have been reported in association with autosomal recessive inheritance of a severe developmental and epileptic encephalopathy. We present two siblings who are homozygous for a novel, missense variant in SCN1B, c.265C>T, predicting p.Arg89Cys. The proband is an 11‐year‐old female with infantile‐onset, fever‐induced, intractable generalized tonic–clonic seizures, myoclonic seizures, and developmental slowing and autism spectrum disorder occurring later in the course of the disease. Her 4‐year‐old brother had a similar epilepsy phenotype, but still displays normal development. This variant has not been previously reported in the homozygous state in control databases. The variant was predicted to be damaging and occurred in the vicinity of other epileptic encephalopathy‐associated missense variants that are biallelic and located in the extracellular immunoglobulin loop domain of the protein, which mediates interaction of the beta‐1 subunit with cellular adhesion molecules. Our report is the first set of siblings with homozygosity for the p.Arg89Cys variant in SCN1B and further implicates biallelic mutations in this gene as a cause of epileptic encephalopathy mimicking Dravet syndrome. Interestingly, the phenotype we observed was milder compared to that previously described in patients with recessive SCN1B mutations. 相似文献
992.
Rego KG Billerbeck AE Targovnik HM Santos CL Alkmin MG Barbosa S Camargo R Medeiros-Neto G 《Endocrine pathology》1997,8(1):37-47
Two unrelated families (CA and NA) in which an iodide organification defect (IOD) was present in two siblings of each family
were studied. These patients had congenital goiters with hypothyroidism and a positive perchlorate discharge test. Examination
of the thyroid tissue revealed no thyroid peroxidase (TPO) activity. Histologic findings were consistent with a microfollicular
pattern of hyperplasia. Moderate cellular atypia was present, characterized by nuclear pleomorphism and hyperchromatism. Full
length thyroglobulin was purified by gel filtration, but was not iodinated. Immunohistochemical studies using a polyclonal
anti-human thyroid peroxidase (hTPO) antibody confirmed the presence of immunoreactive TPO protein in the thyroid tissues.
Samples of normal and affected individuals were studied with respect to the presence of various fragments using TPO probes
of varying sizes. The two affected siblings from family CA were homozygous for fragments 3.9, 4.6, and 7.0 kb (Bg/II) and 2.3 and 2.9 kb (Taql), whereas the parents were heterozygous. In the other family (NA), theBg/II digestion and TPO-31 hybridization revealed an interesting and informative polymorphism. The parents showed two different
polymorphic patterns: the father had a 5.0/4.6 kb pattern and the mother a 4.7/4.5 kb pattern. However, the two affected siblings
showed the same heterozygotic allelic pattern at 4.5/4.6 kb. The restriction fragment length polymorphism detected in these
two families suggests an association between the TPO gene and an IOD. Results suggest that in these dyshormonogenetic tissues
an altered TPO protein molecule is being synthesized, without detectable in vitro activity, but visible by immunostaining
techniques in the goitrous tissue. Mutations in the TPO gene sequence are most likely associated with these changes. 相似文献
993.
A novel mechanism of aberrant pre-mRNA splicing in humans 总被引:4,自引:2,他引:4
Cogan JD; Prince MA; Lekhakula S; Bundey S; Futrakul A; McCarthy EM; Phillips JA rd 《Human molecular genetics》1997,6(6):909-912
994.
995.
R. Kruszynski J. Fichna J.‐C. Do‐Rego N.N. Chung P.W. Schiller P. Kosson J. Costentin A. Janecka 《Chemical biology & drug design》2005,66(3):125-131
Abstract: A series of position 4‐substituted endomorphin‐2 (Tyr‐Pro‐Phe‐Phe‐NH2) analogs containing 3‐(1‐naphthyl)‐alanine (1‐Nal) or 3‐(2‐naphthyl)‐alanine (2‐Nal) in l ‐ or d ‐configuration, was synthesized. The opioid activity profiles of these peptides were determined in the μ‐opioid receptor representative binding assay and in the Guinea‐Pig Ileum assay/Mouse Vas Deferens assay (GPI/MVD) bioassays in vitro, as well as in the mouse hot‐plate test of analgesia in vivo. In the binding assay the affinity of all new analogs for the μ‐opioid receptor was reduced compared with endomorphin‐2. The two most potent analogs were [d ‐1‐Nal4]‐ and [d ‐2‐Nal4]endomorphin‐2, with IC50 values 14 ± 1.25 and 19 ± 2.1 nm , respectively, compared with 1.9 ± 0.21 nm for endomorphin‐2. In the GPI assay these analogs were found to be weak antagonists and they were inactive in the MVD assay. The in vitro GPI assay results were in agreement with those obtained in the in vivo hot‐plate test. Antinociception induced by endomorphin‐2 was reversed by concomitant intracerebroventricula (i.c.v.) administration of [d ‐1‐Nal4]‐ and [d ‐2‐Nal4]‐endomorphin‐2, indicating that these analogs were μ‐opioid antagonists. Their antagonist activity was compared with that of naloxone. At a dose 5 μg per animal naloxone almost completely inhibited antinociceptive action of endomorphin‐2, while [d ‐1‐Nal4]endomorphin‐2 in about 46%. 相似文献
996.
997.
Aim: To derive new reference values for height, weight and body mass index (BMI) of children aged 0–5 years in Denmark and to compare them with the national reference from the 1970s and the 2006 WHO standard. Methods: The height and weight of 4105 healthy singleton children born in 1995 were obtained from a cohort study. Children were measured at birth and at seven regular health examinations by a general practitioner up to 5 years of age. Generalized additive models for location, scale and shape were used to construct percentile curves. Results: Mean length, weight and BMI at birth and during the first months of life increased significantly, but the differences diminished thereafter, and at 1 year BMI had decreased. In boys, weight and BMI had decreased by 2 years of age but had increased, together with height, at 5 years. Children were taller, heavier and had a higher BMI than that referred to in the WHO standard. Conclusion: New references for length or height, weight and BMI by age were constructed for children in Denmark. Since the 1970s, weight, length and BMI at birth increased, and growth during the first year of life appears to be healthier. 相似文献
998.
Edward Lowe Juan Rego Nelson Rego 《Practical procedures & aesthetic dentistry》2008,20(5):273-8; quiz 279
Today's restorative materials enable dental professionals to deliver predictable aesthetic enhancement, particularly for compromised teeth in the anterior region. Treating a single compromised tooth, however, requires a thorough understanding of the restorative material's optical properties, experience in its clinical performance, and awareness of therapeutic modalities that conserve sound tooth structure. In this presentation, the authors demonstrate the use of orthodontic therapy and careful treatment planning to restore a single central incisor using a minimally invasive approach. 相似文献
999.
1000.