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排序方式: 共有420条查询结果,搜索用时 31 毫秒
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Alan Ma Sunita Gurnasinghani Edwin P. Kirk Conor McClenaghan Gautam K. Singh Dorothy K. Grange Chetan Pandit Yung Zhu Tony Roscioli George Elakis Michael Buckley Bhavesh Mehta Philip Roberts Jonathan Mervis Andrew Biggin Colin G. Nichols 《American journal of medical genetics. Part A》2019,179(8):1585-1590
Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. These genes encode gain‐of‐function mutations in the regulatory (SUR2) and pore‐forming (Kir6.1) subunits of KATP channels, respectively, suggesting that channel‐blocking sulfonylureas could be a viable therapy. Here we report a neonate with CS, carrying a heterozygous ABCC9 variant (c.3347G>A, p.Arg1116His), born prematurely at 32 weeks gestation. Initial echocardiogram revealed a large patent ductus arteriosus (PDA), and high pulmonary pressures with enlarged right ventricle. He initially received surfactant and continuous positive airway pressure ventilation and was invasively ventilated for 4 weeks, until PDA ligation. After surgery, he still had ongoing bilevel positive airway pressure (BiPAP) requirement, but was subsequently weaned to nocturnal BiPAP. He was treated for pulmonary hypertension with Sildenafil, but failed to make further clinical improvement. A therapeutic glibenclamide trial was commenced in week 11 (initial dose of 0.05 mg–1 kg–1 day–1 in two divided doses). After 1 week of treatment, he began to tolerate time off BiPAP when awake, and edema improved. Glibenclamide was well tolerated, and the dose was slowly increased to 0.15 mg?1 kg?1day?1 over the next 12 weeks. Mild transient hypoglycemia was observed, but there was no cardiovascular dysfunction. Confirmation of therapeutic benefit will require studies of more CS patients but, based on this limited experience, consideration should be given to glibenclamide as CS therapy, although problems associated with prematurity, and complications of hypoglycemia, might limit outcome in critically ill neonates with CS. 相似文献
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Sequence Analysis of the RNA Polymerase Gene of Foot-and-Mouth Disease Virus Serotype Asia1 总被引:1,自引:0,他引:1
George M Venkataramanan R Pattnaik B Sanyal A Gurumurthy CB Hemadri D Tosh C 《Virus genes》2001,22(1):21-26
The complete nucleotide (nt.) sequence of the RNA polymerase (3D) gene and 81 nt. in the 3-untranslated region of foot-and-mouth disease virus (FMDV) serotype Asia1 (IND63/72) was determined and compared with the sequence of other FMDV serotypes. The 3D genomic region was 1410 nt. long encoding 470 amino acids with an inframe stop codon (TAA) at nt. position 1411–1413. The deduced amino acid sequence of the protein showed 8 conserved motifs as reported in other picornaviruses, 2 of which are 100% identical across the serotypes. Antigenic regions in the polymerase protein were predicted and found to be located at the N-terminus of the protein. The phylogenetic analysis showed that the FMD viruses were segregated into different clusters based on geographical origin; the Asia1 virus did not cluster tightly with any of the geographical groups. 相似文献
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Mervis CB Morris CA Klein-Tasman BP Bertrand J Kwitny S Appelbaum LG Rice CE 《Developmental neuropsychology》2003,23(1-2):243-268
Two studies were conducted to consider the looking behavior of infants and toddlers with Williams syndrome (WS).In Study 1,the looking behavior of a 10-month-old girl with WS during play sessions with her mother and with a stranger was compared to that of 2 groups of infants who were developing normally (ND),1 matched for chronological age and the other for developmental age. The infant with WS spent more than twice as much time looking at her mother as the infants in either contrast group did. She also spent twice as much time looking at the stranger.In addition, during 78%of this time, her gaze at the stranger was coded as extremely intense. Looks of this intensity were virtually never made by the ND infants. In Study 2,the looking behavior of 31 individuals with WS ages 8 to 43 months during a genetics evaluation was compared to that of 319 control children in the same age range (242 with developmental delay due to causes other than WS).Twenty-three of the 25 participants with WS aged 33 months or younger demonstrated extended and intense looking at the geneticist. In contrast, none of the control participants looked extensively or intently at the geneticist. Findings are discussed in the context of previous research on arousal and focused attention during normal development and on temperament and personality of older children and adults with WS. It is argued that the unusual looking patterns evidenced by infants and toddlers with WS presage the unusual temperament and personality of older individuals with WS, and the possibility of a genetic basis for these behaviors is addressed. 相似文献
10.
Comparison of ultrasonographic findings in spontaneous abortions with normal and abnormal karyotypes 总被引:2,自引:2,他引:2
To determine whether ultrasonographic findings can predict the karyotype of
spontaneous abortions, 137 pregnancies (54 spontaneous, 83 assisted
ovulatory cycles) that subsequently aborted and had chromosome analysis
performed on the products of conception were studied ultrasonographically.
Transvaginal ultrasound was performed using an Acuson 128XP/10 with 7.5 MHz
probe. The numbers of empty gestational sacs, small and normal for
gestational size, embryonic poles and embryos with documented cardiac
activity were calculated. The frequency of each of these findings in
pregnancies with normal and abnormal karyotypes was compared. Of the 137
spontaneous abortions, 51 had normal chromosome analyses and 86 had
abnormal karyotypes (68 aneuploidies and 18 polyploidies). Ultrasonographic
findings in the 51 karyotypically normal pregnancies included 16 (31%) with
empty gestational sacs, and 35 (69%) with embryonic poles, of which 24
(69%) were at least 1 week smaller than expected for gestational age and 11
(31%) were the expected size. Embryonic cardiac activity was documented in
22 (63%) of the 35 embryonic poles. Amongst 86 pregnancies with abnormal
karyotypes, similar frequencies of ultrasound findings were found: 23 (27%)
with empty gestational sacs, 42 (67%) with embryonic poles smaller than
expected for gestational age, and 50 (79%) embryos lost after documentation
of embryonic cardiac activity. No differences in the frequency of
ultrasonographic findings of empty gestational sacs, small embryonic pole
and embryonic cardiac activity were observed between karyotypically normal
and abnormal spontaneous abortions. Ultrasonographic findings cannot
predict the karyotype of spontaneous abortions.
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