Hasil Pencarian - Alexander Hoischen

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  1. 1
    Long-Read Sequencing Emerging in Medical Genetics

    Long-Read Sequencing Emerging in Medical Genetics oleh Tuomo Mantere, Tuomo Mantere, Simone Kersten, Simone Kersten, Simone Kersten, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen

    Diterbitkan 2019-05-01
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  2. 2
    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*

    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* oleh Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

    Diterbitkan 2024-01-01
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  3. 3
    Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19

    Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19 oleh Caspar I. van der Made, Mihai G. Netea, Frank L. van der Veerdonk, Alexander Hoischen

    Diterbitkan 2022-08-01
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  4. 4
    Quantification of differential gene expression by multiplexed targeted resequencing of cDNA

    Quantification of differential gene expression by multiplexed targeted resequencing of cDNA oleh Peer Arts, Jori van der Raadt, Sebastianus H.C. van Gestel, Marloes Steehouwer, Jay Shendure, Alexander Hoischen, Cornelis A. Albers

    Diterbitkan 2017-05-01
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  5. 5
    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing oleh François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas

    Diterbitkan 2024-03-01
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  6. 6
    Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

    Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia oleh Michaela Pogoda, Franz-Joachim Hilke, Franz-Joachim Hilke, Ebba Lohmann, Ebba Lohmann, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Francesc Muyas, Francesc Muyas, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Alexander Hoischen, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Nicolas Casadei, Sven Poths, Olaf Riess, Olaf Riess, Christopher Schroeder, Kathrin Grundmann

    Diterbitkan 2019-12-01
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  7. 7
    Pro-inflammatory Monocyte Phenotype During Acute Progression of Cerebral Small Vessel Disease

    Pro-inflammatory Monocyte Phenotype During Acute Progression of Cerebral Small Vessel Disease oleh Marlies P. Noz, Annemieke ter Telgte, Kim Wiegertjes, Anil M. Tuladhar, Charlotte Kaffa, Simone Kersten, Simone Kersten, Siroon Bekkering, Charlotte D. C. C. van der Heijden, Alexander Hoischen, Alexander Hoischen, Leo A. B. Joosten, Leo A. B. Joosten, Mihai G. Netea, Mihai G. Netea, Marco Duering, Marco Duering, Marco Duering, Frank-Erik de Leeuw, Niels P. Riksen

    Diterbitkan 2021-05-01
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  8. 8
    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 oleh Xavier Solanich, Gardenia Vargas-Parra, Gardenia Vargas-Parra, Caspar I. van der Made, Caspar I. van der Made, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús del Valle, Jesús del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Manel Esteller, Manel Esteller, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera-Mestre, Antoni Riera-Mestre, Joan Sabater-Riera, Gabriel Capellá, Gabriel Capellá, Frank L. van de Veerdonk, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Xavier Corbella, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Conxi Lázaro, Conxi Lázaro

    Diterbitkan 2021-07-01
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  9. 9
    Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity

    Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity oleh Helin Tercan, Benjamin C. Cossins, Rosanne C. van Deuren, Joost H. W. Rutten, Leo A. B. Joosten, Mihai G. Netea, Alexander Hoischen, Siroon Bekkering, Niels P. Riksen

    Diterbitkan 2024-01-01
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  10. 10
    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing oleh Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium

    Diterbitkan 2023-05-01
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  11. 11
    Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View

    Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View oleh Maurits A. Sikking, Sophie L. V. M. Stroeks, Olivia J. Waring, Michiel T. H. M. Henkens, Niels P. Riksen, Alexander Hoischen, Stephane R. B. Heymans, Job A. J. Verdonschot

    Diterbitkan 2023-08-01
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  12. 12
    A Case–Control Study Supports Genetic Contribution of the <i>PON</i> Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease

    A Case–Control Study Supports Genetic Contribution of the <i>PON</i> Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease oleh Evelien Van Dijck, Sara Diels, Erik Fransen, Tycho Canter Cremers, An Verrijken, Eveline Dirinck, Alexander Hoischen, Geert Vandeweyer, Wim Vanden Berghe, Luc Van Gaal, Sven Francque, Wim Van Hul

    Diterbitkan 2024-08-01
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  13. 13
    Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease

    Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease oleh Mihaela I. Dregoesc, Helin Tercan, Adrian B. Țigu, Siroon Bekkering, Leo AB. Joosten, Mihai G. Netea, Rosanne C. van Deuren, Alexander Hoischen, Niels P. Riksen, Adrian C. Iancu

    Diterbitkan 2024-04-01
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  14. 14
    Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain.

    Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain. oleh Emeric F Bojarski, Adam C Strauss, Adam P Fagin, Theo S Plantinga, Alexander Hoischen, Joris Veltman, Stephen A Allsop, Victor J Anciano Granadillo, Arsani William, Mihai G Netea, Jordan Dimitrakoff

    Diterbitkan 2013-01-01
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  15. 15
    Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

    Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation oleh Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

    Diterbitkan 2023-10-01
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  16. 16
    Novel GANAB variants associated with polycystic liver disease

    Novel GANAB variants associated with polycystic liver disease oleh Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth

    Diterbitkan 2020-10-01
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  17. 17
    SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

    SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation oleh Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen

    Diterbitkan 2023-06-01
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  18. 18
    Multi-omic profiling of pathogen-stimulated primary immune cells

    Multi-omic profiling of pathogen-stimulated primary immune cells oleh Renee Salz, Emil E. Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Tabea V. Riepe, Tsung-han Hsieh, Musa Mhlanga, Mihai G. Netea, Pieter-Jan Volders, Alexander Hoischen, Peter A.C. ’t Hoen

    Diterbitkan 2024-08-01
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  19. 19
    Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

    Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. oleh Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs

    Diterbitkan 2023-08-01
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  20. 20
    Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

    Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. oleh Eleni Giannoulatou, Geoffrey J Maher, Zhihao Ding, Ad J M Gillis, Lambert C J Dorssers, Alexander Hoischen, Ewa Rajpert-De Meyts, WGS500 Consortium, Gilean McVean, Andrew O M Wilkie, Leendert H J Looijenga, Anne Goriely

    Diterbitkan 2017-01-01
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