Hasil Pencarian - Peter N. Robinson

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  1. 1
    Phenotype ontologies and cross-species analysis for translational research.

    Phenotype ontologies and cross-species analysis for translational research. oleh Peter N Robinson, Caleb Webber

    Diterbitkan 2014-04-01
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  2. 2
    Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

    Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods oleh Marco Notaro, Max Schubach, Peter N. Robinson, Giorgio Valentini

    Diterbitkan 2017-10-01
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  3. 3
    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants oleh Max Schubach, Matteo Re, Peter N. Robinson, Giorgio Valentini

    Diterbitkan 2017-06-01
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  4. 4
    Biometric and structural ocular manifestations of Marfan syndrome.

    Biometric and structural ocular manifestations of Marfan syndrome. oleh Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow

    Diterbitkan 2017-01-01
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  5. 5
    From transcriptomics to digital twins of organ function

    From transcriptomics to digital twins of organ function oleh Jens Hansen, Abhinav R. Jain, Philip Nenov, Philip Nenov, Peter N. Robinson, Ravi Iyengar

    Diterbitkan 2024-06-01
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  6. 6
    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach oleh Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer

    Diterbitkan 2016-05-01
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  7. 7
    HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

    HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis oleh Guy Karlebach, Peter Hansen, Diogo FT Veiga, Robin Steinhaus, Daniel Danis, Sheng Li, Olga Anczukow, Peter N Robinson

    Diterbitkan 2020-07-01
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  8. 8
    Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.

    Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. oleh Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch, Roland Hetzer, Peter N Robinson

    Diterbitkan 2011-01-01
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  9. 9
    Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

    Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. oleh Tom Kamphans, Peggy Sabri, Na Zhu, Verena Heinrich, Stefan Mundlos, Peter N Robinson, Dmitri Parkhomchuk, Peter M Krawitz

    Diterbitkan 2013-01-01
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  10. 10
    NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome

    NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome oleh Petra Gehle, Peter N. Robinson, Frank Heinzel, Frank Edelmann, Mustafa Yigitbasi, Felix Berger, Volkmar Falk, Burkert Pieske, Ernst Wellnhofer

    Diterbitkan 2016-09-01
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  11. 11
    An evaluation of GPT models for phenotype concept recognition

    An evaluation of GPT models for phenotype concept recognition oleh Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese

    Diterbitkan 2024-01-01
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  12. 12
    GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

    GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution oleh Peter Hansen, Salaheddine Ali, Hannah Blau, Daniel Danis, Jochen Hecht, Uwe Kornak, Darío G. Lupiáñez, Stefan Mundlos, Robin Steinhaus, Peter N. Robinson

    Diterbitkan 2019-01-01
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  13. 13
    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. oleh Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, Peter N Robinson

    Diterbitkan 2009-05-01
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  14. 14
    Investigation of heart proteome of different consomic mouse strains. Testing the effect of polymorphisms on the proteome-wide trans-variation of proteins

    Investigation of heart proteome of different consomic mouse strains. Testing the effect of polymorphisms on the proteome-wide trans-variation of proteins oleh Stefanie Forler, Oliver Klein, Sebastian Köhler, Peter N. Robinson, Henning Witt, Marc Sultan, Murat Eravci, Vera Regitz-Zagrosek, Hans Lehrach, Joachim Klose

    Diterbitkan 2015-06-01
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  15. 15
    Correction to: An ontological foundation for ocular phenotypes and rare eye diseases

    Correction to: An ontological foundation for ocular phenotypes and rare eye diseases oleh Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Diterbitkan 2019-08-01
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  16. 16
    Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

    Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes oleh Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson

    Diterbitkan 2020-02-01
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  17. 17
    Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

    Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. oleh Ivana Jerković, Daniel M Ibrahim, Guillaume Andrey, Stefan Haas, Peter Hansen, Catrin Janetzki, Irene González Navarrete, Peter N Robinson, Jochen Hecht, Stefan Mundlos

    Diterbitkan 2017-01-01
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  18. 18
    An ontological foundation for ocular phenotypes and rare eye diseases

    An ontological foundation for ocular phenotypes and rare eye diseases oleh Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Diterbitkan 2019-01-01
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  19. 19
    MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.

    MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. oleh Claus Eric Ott, Johannes Grünhagen, Marten Jäger, Daniel Horbelt, Simon Schwill, Klaus Kallenbach, Gao Guo, Thomas Manke, Petra Knaus, Stefan Mundlos, Peter N Robinson

    Diterbitkan 2011-01-01
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  20. 20
    An ontology-based knowledge graph for representing interactions involving RNA molecules

    An ontology-based knowledge graph for representing interactions involving RNA molecules oleh Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J. Callahan, Justin Reese, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti

    Diterbitkan 2024-08-01
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