Search Results - Katrien Janssens

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  1. 1
    Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein

    Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein by Katrien Janssens, Peter ten Dijke, Stuart H. Ralston, Carsten Bergmann, Wim Van Hul

    Published 2003
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    Artigo
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  2. 2
    Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

    Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment by Katrien Janssens, Filip Vanhoenacker, M Bonduelle, Leon Verbruggen, Lionel Van Maldergem, Stuart H. Ralston, Núria Guañabens, Nicola Migone, Shlomo Wientroub, Maria Teresa Divizia, Carsten Bergmann, Craig R. Bennett, Suat Şimşek, S. Melançon, Tim Cundy, Wim Van Hul

    Published 2005
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    Revisão
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  3. 3
    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies by Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M.E. van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Published 2016
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    Artigo
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  4. 4
    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I by Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

    Published 2010
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  5. 5
    Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

    Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis by Jan Hellemans, Olena Preobrazhenska, Andy Willaert, Philippe Debeer, Peter Verdonk, Teresa Costa, Katrien Janssens, Björn Menten, Nadine Van Roy, Stefan Vermeulen, Ravi Savarirayan, Wim Van Hul, Filip Vanhoenacker, Danny Huylebroeck, Anne De Paepe, J.M. Naeyaert, Jo Vandesompele, Frank Speleman, Kristin Verschueren, Paul Coucke, Geert Mortier

    Published 2004
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  6. 6
    The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent populations

    The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent populations by Melissa Thys, Isabelle Schrauwen, Kathleen Vanderstraeten, Katrien Janssens, Nele Dieltjens, Kris Van Den Bogaert, Erik Fransén, Wenjie Chen, Megan Ealy, Mireille Claustres, Cor R.W.J. Cremers, Ingeborg Dhooge, Frank Declau, Jos Claes, Paul Van de Heyning, Robert Vincent, Thomas Somers, Erwin Offeciers, Richard J. Smith, Guy Van Camp

    Published 2007
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  7. 7
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening by Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gâtinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean‐Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Léonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Vermeesch

    Published 2021
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