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125 392 (0,172s) •

Result

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

and 351 candidate genes for EE in 360 patients. Variants in 25 genes known the candidate genes, and followed up 31 variants in this prioritized subset of candidate and the X-linked gene IQSEC2. A de novo ...

FH - Neurologie, neurochirurgie, neurovědy

  • 2016
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  • Jx
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  • Link
Result

Black-Box Optimization Benchmarking of Two Variants of the POEMS Algorithm on the Noiseless Testbed

-free functions testbed. An original version of the POEMS algorithm presented at BBOB 2009workshop is compared to a new variant using a pool of candidate prototypes variant of POEMS performs better on several f...

JC - Počítačový hardware a software

  • 2010
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  • D
Result

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis

highlighted several candidate variants among different populations. However, the genetic basis of functional rare variants in sarcoidosis still needs to be explored. To identify functional rare varian...

Human genetics

  • 2018
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  • Jimp
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  • Link
Result

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

in1q41 and 12q13.13 regions and found strong evidence for candidate functional variants.

EB - Genetika a molekulární biologie

  • 2012
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  • Jx
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  • Link
Result

International Lung Cancer Consortium: Coordinated association study of 10 potential lung cancer susceptibility variants

a coordinatedgenotyping study of 10 common variants selected because of their prior evidence of an association with lung cancer. These variants belonged to candidate genes from differentAnalysis of candidate genes...

FM - Hygiena

  • 2010
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  • Jx
Result

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

and II and two in family III. Functional studies were conducted on the candidate from affected and 9 unaffected family members from three HL-prone families and variants were prioritized using our Familial Cancer Varian...

Oncology

  • 2020
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  • Jimp
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  • Link
Result

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

-associated myopathy and assessed the burden of rare variants using candidate-geneAim: Genetic variants affecting statin uptake, metabolism or predisposing the SLCO1B1 rs4149056 genotype, common genetic variants do...

EB - Genetika a molekulární biologie

  • 2016
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  • Jx
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Result

The ataxia telangiectasia variant genes 1 and 2 show no linkage to the AT candidate region on chromosome

EB - Genetika a molekulární biologie

  • 1995
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  • Jx
Result

On Determination of Goal Candidates in Frontier-Based Multi-Robot Exploration

for a mobile robot exploration task. Many variants have been proposed; however, relatively little attention has been made to study the influence of goal candidates generation as eventual goals for the next-best-view selection using...

JC - Počítačový hardware a software

  • 2013
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  • D
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  • Link
Result

Association Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations

fibrosis. In this study, we aimed to replicate MUC5B rs35705950 variants and determine new plausible candidate variants for IPF among four different European populations. We genotyped 26 IPF candidate loci in 165 ...

EB - Genetika a molekulární biologie

  • 2016
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  • Jx
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  • Link
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