Resultats de la cerca - Sandra Jansen

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  1. 1
    The Genetics of Intellectual Disability

    The Genetics of Intellectual Disability per Sandra Jansen, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Publicat 2023
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  2. 2
    Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

    Classic Selective Sweeps Revealed by Massive Sequencing in Cattle per Saber Qanbari, Hubert Pausch, Sandra Jansen, Mehmet Somel, Tim M. Strom, Ruedi Fries, Rasmus Nielsen, Henner Simianer

    Publicat 2014
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  3. 3
    Involvement of formyl peptide receptors in receptor for advanced glycation end products (RAGE) - and amyloid beta 1-42-induced signal transduction in glial cells

    Involvement of formyl peptide receptors in receptor for advanced glycation end products (RAGE) - and amyloid beta 1-42-induced signal transduction in glial cells per Alexander Slowik, Julika Merres, Anne Elfgen, Sandra Jansen, Fabian Mohr, Christoph Jan Wruck, Thomas Pufe, Lars‐Ove Brandenburg

    Publicat 2012
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  4. 4
    Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

    Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle per Hubert Pausch, Hermann Schwarzenbacher, Johann Burgstaller, Krzysztof Flisikowski, Christine Wurmser, Sandra Jansen, Simone Jung, Angelika Schnieke, Thomas Wittek, Ruedi Fries

    Publicat 2015
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  5. 5
    Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease

    Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease per Athanassios Fragoulis, Stephanie Siegl, Markus Fendt, Sandra Jansen, Ulf Soppa, Lars‐Ove Brandenburg, Thomas Pufe, Joachim Weis, Christoph Jan Wruck

    Publicat 2017
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  6. 6
    A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle

    A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle per Hubert Pausch, Sabine Kölle, Christine Wurmser, Hermann Schwarzenbacher, Reiner Emmerling, Sandra Jansen, Matthias Trottmann, C. Fuerst, Kay‐Uwe Götz, Ruedi Fries

    Publicat 2014
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  7. 7
    Lack of formyl peptide receptor 1 and 2 leads to more severe inflammation and higher mortality in mice with of pneumococcal meningitis

    Lack of formyl peptide receptor 1 and 2 leads to more severe inflammation and higher mortality in mice with of pneumococcal meningitis per Sandra Oldekamp, Sebastian Pscheidl, Eugenia Kress, Oliver Soehnlein, Sandra Jansen, Thomas Pufe, Ji Ming Wang, Simone C. Tauber, Lars‐Ove Brandenburg

    Publicat 2014
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  8. 8
    A systematic review and meta-analysis of the effects of supervised exercise therapy on modifiable cardiovascular risk factors in intermittent claudication

    A systematic review and meta-analysis of the effects of supervised exercise therapy on modifiable cardiovascular risk factors in intermittent claudication per Sandra Jansen, Beatrijs Hoorweg, Sanne E. Hoeks, Marijn M.L. van den Houten, Marc R. Scheltinga, Joep A.W. Teijink, Ellen V. Rouwet

    Publicat 2019
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  9. 9
    Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

    Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage per Sandra Jansen, Bernhard Aigner, Hubert Pausch, Michał Wysocki, Sebastian Eck, Anna Benet‐Pagès, Elisabeth Graf, Thomas Wieland, Tim M. Strom, Thomas Meitinger, Ruedi Fries

    Publicat 2013
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  10. 10
    Membrane-anchored uPAR regulates the proliferation, marrow pool size, engraftment, and mobilization of mouse hematopoietic stem/progenitor cells

    Membrane-anchored uPAR regulates the proliferation, marrow pool size, engraftment, and mobilization of mouse hematopoietic stem/progenitor cells per Marc Tjwa, Nicolai Sidénius, Rute Moura, Sandra Jansen, Koen Theunissen, Annapaola Andolfo, Maria De Mol, Mieke Dewerchin, Lieve Moons, Francesco Blasi, Catherine M. Verfaillie, Peter Carmeliet

    Publicat 2009
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  11. 11
    Loss of the Cholesterol-Binding Protein Prominin-1/CD133 Causes Disk Dysmorphogenesis and Photoreceptor Degeneration

    Loss of the Cholesterol-Binding Protein Prominin-1/CD133 Causes Disk Dysmorphogenesis and Photoreceptor Degeneration per Serena Zacchigna, Hideyasu Oh, Michaela Wilsch‐Bräuninger, Ewa Missol‐Kolka, József Jászai, Sandra Jansen, Naoyuki Tanimoto, Felix Tonagel, Mathias W. Seeliger, Wieland Β. Huttner, Denis Corbeil, Mieke Dewerchin, Stefan Vinckier, Lieve Moons, Peter Carmeliet

    Publicat 2009
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  12. 12
    Evaluation of variant identification methods for whole genome sequencing data in dairy cattle

    Evaluation of variant identification methods for whole genome sequencing data in dairy cattle per Christine F. Baes, Marlies Dolezal, James E. Koltes, Beat Bapst, Eric Fritz-Waters, Sandra Jansen, Christine Flury, Heidi Signer‐Hasler, Christine Stricker, Rohan L. Fernando, Ruedi Fries, Juerg Moll, Dorian J. Garrick, James M. Reecy, Birgit Gredler

    Publicat 2014
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  13. 13
    Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms

    Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms per Ingeborg Stalmans, Yin‐Shan Ng, Richard M. Rohan, Marcus Fruttiger, Ann Bouché, Ali Yüce, Hajime Fujisawa, Bart Hermans, Moshe Shani, Sandra Jansen, Dan Hicklin, David J. Anderson, Tom A. Gardiner, Hans‐Peter Hammes, Lieve Moons, Mieke Dewerchin, Désiré Collen, Peter Carmeliet, Patricia A. D’Amore

    Publicat 2002
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  14. 14
    Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms

    Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms per Ingeborg Stalmans, Yin‐Shan Ng, Richard M. Rohan, Marcus Fruttiger, Ann Bouché, Ali Yüce, Hajime Fujisawa, Bart Hermans, Moshe Shani, Sandra Jansen, Dan Hicklin, David J. Anderson, Tom A. Gardiner, Hans‐Peter Hammes, Lieve Moons, Mieke Dewerchin, Désiré Collen, Peter Carmeliet, Patricia A. D’Amore

    Publicat 2002
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  15. 15
    Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

    Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype per Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B.A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong‐Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J.F. Letteboer, Sylvia E. C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman

    Publicat 2017
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  16. 16
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients per Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    Publicat 2020
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  17. 17
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome per Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Publicat 2017
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  18. 18
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders per Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    Publicat 2018
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  19. 19
    PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

    PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework per Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed, Elke de Boer, Jet van der Spek, Sandra Jansen, Bregje W.M. van Bon, Noraly Jonis, Charlotte W. Ockeloen, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Philippe M. Campeau, Elizabeth E. Palmer, Hilde Van Esch, Gholson J. Lyon, Fowzan S. Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J. van der Sluijs, Gijs W.E. Santen, R. Frank Kooy, Marcel van Gerven, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Publicat 2023
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  20. 20
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants per Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    Publicat 2017
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