Search Results - "Hinkel, Georg"
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The Tecan SiLA2 SDK: A royalty-free, open-source framework to develop SiLA2 servers and clients
Published in SLAS technology (01-10-2023)“…Many devices in a laboratory only have proprietary interfaces. Integrating them into an automation platform such as a Robotic Liquid Handler (RLH) thus usually…”
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Benchmarking bidirectional transformations: theory, implementation, application, and assessment
Published in Software and systems modeling (01-05-2020)“…Bidirectional transformations (bx) are relevant for a wide range of application domains. While bx problems may be solved with unidirectional languages and…”
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A cross-technology benchmark for incremental graph queries
Published in Software and systems modeling (01-04-2022)“…To cope with the increased complexity of systems, models are used to capture what is considered the essence of a system. Such models are typically represented…”
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4
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients
Published in Human molecular genetics (15-01-2007)“…Defects in long-range regulatory elements have recently emerged as previously underestimated factors in the genesis of human congenital disorders. Léri-Weill…”
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5
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
Published in European journal of human genetics : EJHG (01-02-2003)“…Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate…”
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An NMF solution for the Petri Nets to State Charts case study at the TTC 2013
Published in Electronic proceedings in theoretical computer science (29-11-2013)“…Software systems are getting more and more complex. Model-driven engineering (MDE) offers ways to handle such increased complexity by lifting development to a…”
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7
Using structural decomposition and refinements for deep modeling of software architectures
Published in Software and systems modeling (01-10-2019)“…Traditional metamodeling in two levels gets to its limits when model elements of a domain should be described as instances of other model elements. For example…”
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An NMF solution for the Flowgraphs case at the TTC 2013
Published in Electronic proceedings in theoretical computer science (29-11-2013)“…Software systems are getting more and more complex. Model-driven engineering (MDE) offers ways to handle such increased complexity by lifting development to a…”
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9
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
Published in European journal of human genetics : EJHG (01-05-2005)“…Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition with male lethality characterized by microphthalmia, congenital cataracts,…”
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10
Change propagation and bidirectionality in internal transformation DSLs
Published in Software and systems modeling (01-02-2019)“…Despite good results in several industrial projects, model-driven engineering (MDE) has not been widely adopted in industry. Although MDE has existed for more…”
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11
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Published in European journal of human genetics : EJHG (01-11-2004)“…To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene…”
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12
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33
Published in American journal of medical genetics. Part A (01-08-2004)“…Submicroscopic or subtle aneusomies at the chromosome ends, typically diagnosed by subtelomere fluorescence in situ hybridization (FISH), are a significant…”
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13
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Published in European journal of human genetics : EJHG (01-10-1999)“…Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature…”
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14
An extensible approach to implicit incremental model analyses
Published in Software and systems modeling (01-10-2019)“…As systems evolve, analysis results based on models of the system must be updated, in many cases as fast as possible. Since usually only small parts of the…”
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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
Published in European journal of human genetics : EJHG (01-01-2001)“…Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the…”
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Using internal domain-specific languages to inherit tool support and modularity for model transformations
Published in Software and systems modeling (01-02-2019)“…Model-driven engineering (MDE) has proved to be a useful approach to cope with today’s ever-growing complexity in the development of software systems;…”
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Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3
Published in American journal of medical genetics. Part A (01-07-2004)“…We report clinical, cytogenetic, and molecular cytogenetic studies on four patients with subtle or submicroscopic 7q36 deletions either of de novo origin or…”
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18
Jejunal atresia related to the use of toluidine blue in genetic amniocentesis in twins
Published in Journal of perinatal medicine (01-01-2003)“…Since 1990 avoidance of methylene blue as a dye in diagnostic amniocentesis is recommended. This is the result of the observation that a high incidence of…”
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Connecting Artificial Brains to Robots in a Comprehensive Simulation Framework: The Neurorobotics Platform
Published in Frontiers in neurorobotics (25-01-2017)“…Combined efforts in the fields of neuroscience, computer science, and biology allowed to design biologically realistic models of the brain based on spiking…”
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A Framework for Coupled Simulations of Robots and Spiking Neuronal Networks
Published in Journal of intelligent & robotic systems (2017)“…Bio-inspired robots still rely on classic robot control although advances in neurophysiology allow adaptation to control as well. However, the connection of a…”
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