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991.
Stephanie J. Galla Liz Brown Yvette Couch-Lewis Ilina Cubrinovska Daryl Eason Rebecca M. Gooley Jill A. Hamilton Julie A. Heath Samantha S. Hauser Emily K. Latch Marjorie D. Matocq Anne Richardson Jana R. Wold Carolyn J. Hogg Anna W. Santure Tammy E. Steeves 《Molecular ecology》2022,31(1):41-54
Over the past 50 years conservation genetics has developed a substantive toolbox to inform species management. One of the most long-standing tools available to manage genetics—the pedigree—has been widely used to characterize diversity and maximize evolutionary potential in threatened populations. Now, with the ability to use high throughput sequencing to estimate relatedness, inbreeding, and genome-wide functional diversity, some have asked whether it is warranted for conservation biologists to continue collecting and collating pedigrees for species management. In this perspective, we argue that pedigrees remain a relevant tool, and when combined with genomic data, create an invaluable resource for conservation genomic management. Genomic data can address pedigree pitfalls (e.g., founder relatedness, missing data, uncertainty), and in return robust pedigrees allow for more nuanced research design, including well-informed sampling strategies and quantitative analyses (e.g., heritability, linkage) to better inform genomic inquiry. We further contend that building and maintaining pedigrees provides an opportunity to strengthen trusted relationships among conservation researchers, practitioners, Indigenous Peoples, and Local Communities. 相似文献
992.
Elizabeth E. Palmer Seungbeom Hong Fatema Al Zahrani Mais O. Hashem Fajr A. Aleisa Heba M. Jalal Ahmed Tejaswi Kandula Rebecca Macintosh Andre E. Minoche Clare Puttick Velimir Gayevskiy Alexander P. Drew Mark J. Cowley Marcel Dinger Jill A. Rosenfeld Rui Xiao Megan T. Cho Suliat F. Yakubu Stefan T. Arold 《American journal of human genetics》2019,104(3):542-552
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994.
Jill C. Gregory Jennifer A. Buffa Elin Org Zeneng Wang Bruce S. Levison Weifei Zhu Matthew A. Wagner Brian J. Bennett Lin Li Joseph A. DiDonato Aldons J. Lusis Stanley L. Hazen 《The Journal of biological chemistry》2015,290(9):5647-5660
Recent studies indicate both clinical and mechanistic links between atherosclerotic heart disease and intestinal microbial metabolism of certain dietary nutrients producing trimethylamine N-oxide (TMAO). Here we test the hypothesis that gut microbial transplantation can transmit choline diet-induced TMAO production and atherosclerosis susceptibility. First, a strong association was noted between atherosclerotic plaque and plasma TMAO levels in a mouse diversity panel (n = 22 strains, r = 0.38; p = 0.0001). An atherosclerosis-prone and high TMAO-producing strain, C57BL/6J, and an atherosclerosis-resistant and low TMAO-producing strain, NZW/LacJ, were selected as donors for cecal microbial transplantation into apolipoprotein e null mice in which resident intestinal microbes were first suppressed with antibiotics. Trimethylamine (TMA) and TMAO levels were initially higher in recipients on choline diet that received cecal microbes from C57BL/6J inbred mice; however, durability of choline diet-dependent differences in TMA/TMAO levels was not maintained to the end of the study. Mice receiving C57BL/6J cecal microbes demonstrated choline diet-dependent enhancement in atherosclerotic plaque burden as compared with recipients of NZW/LacJ microbes. Microbial DNA analyses in feces and cecum revealed transplantation of donor microbial community features into recipients with differences in taxa proportions between donor strains that were transmissible to recipients and that tended to show coincident proportions with TMAO levels. Proportions of specific taxa were also identified that correlated with plasma TMAO levels in donors and recipients and with atherosclerotic lesion area in recipients. Atherosclerosis susceptibility may be transmitted via transplantation of gut microbiota. Gut microbes may thus represent a novel therapeutic target for modulating atherosclerosis susceptibility. 相似文献
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997.
Muhammad?Sajid Hussain Agatino Battaglia Sandra Szczepanski Emrah Kaygusuz Mohammad?Reza Toliat Shin-ichi Sakakibara Janine Altmüller Holger Thiele Gudrun Nürnberg Shahida Moosa G?khan Yigit Filippo Beleggia Sigrid Tinschert Jill Clayton-Smith Pradeep Vasudevan Jill?E. Urquhart Dian Donnai Alan Fryer Ferda Percin Francesco Brancati Angus Dobbie Robert ?migiel Gabriele Gillessen-Kaesbach Bernd Wollnik Angelika?Anna Noegel William?G. Newman Peter Nürnberg 《American journal of human genetics》2014,95(5):622-632
Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs∗6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. 相似文献
998.
Fan Xia Matthew?N. Bainbridge Tiong?Yang Tan Michael?F. Wangler Angela?E. Scheuerle Elaine?H. Zackai Margaret?H. Harr V.?Reid Sutton Roopa?L. Nalam Wenmiao Zhu Margot Nash Monique?M. Ryan Joy Yaplito-Lee Jill?V. Hunter Matthew?A. Deardorff Samantha?J. Penney Arthur?L. Beaudet Sharon?E. Plon Eric?A. Boerwinkle James?R. Lupski Christine?M. Eng Donna?M. Muzny Yaping Yang Richard?A. Gibbs 《American journal of human genetics》2014,94(5):784-789
Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 “known” disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. 相似文献
999.
This article is part of a Special Issue “Energy Balance”. 相似文献
1000.
This article is part of a Special Issue “Energy Balance”. 相似文献