Sökresultat - Sandra Janssens

Förfina resultatet
  1. 1
    Voice-Related Quality of Life in Adults With Neurofibromatosis Type 1

    Voice-Related Quality of Life in Adults With Neurofibromatosis Type 1 av Marjan Cosyns, Geert Mortier, Sandra Janssens, John Van Borsel

    Publicerad 2011
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  2. 2
    Objective assessment of nasality in flemish adults with neurofibromatosis type 1

    Objective assessment of nasality in flemish adults with neurofibromatosis type 1 av Marjan Cosyns, Geert Mortier, Sandra Janssens, Kathleen Claes, John Van Borsel

    Publicerad 2011
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  3. 3
    Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

    Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples av Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman

    Publicerad 2009
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  4. 4
    Disfluency: it is not always stuttering

    Disfluency: it is not always stuttering av Marc Cosyns, Yvonne van Zaalen, Geert Mortier, Sandra Janssens, Annelies Amez, Jonas Van Damme, John Van Borsel

    Publicerad 2013
    Hämta fulltext Hämta fulltext
    Carta
    Lägg till i favoriter
    Sparad:
  5. 5
    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability av Sarah Vergult, Annelies Dheedene, Alfred Meurs, Fran Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, Björn Menten

    Publicerad 2014
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  6. 6
    Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

    Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 av Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen

    Publicerad 2007
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  7. 7
    ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas

    ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas av Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen

    Publicerad 2006
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  8. 8
    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations av Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, António Toscano, C. Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro

    Publicerad 2015
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  9. 9
    <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

    <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly av Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C. de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

    Publicerad 2013
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  10. 10
    Autosomal Dominant Pseudohypoaldosteronism Type 1

    Autosomal Dominant Pseudohypoaldosteronism Type 1 av David S. Geller, Junhui Zhang, Maria‐Christina Zennaro, Alberto Vallo-Boado, Juan Rodríguez‐Soriano, Laszlo Furu, Robert Haws, Daniel L. Metzger, Barbara Botelho, Lefkothea Karaviti, Andrea M. Haqq, Howard E. Corey, Sandra Janssens, Pierre Corvol, Richard P. Lifton

    Publicerad 2006
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  11. 11
    Responsible implementation of expanded carrier screening

    Responsible implementation of expanded carrier screening av Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C. Cornel, Carla van El, Francesca Forzano, Alison Hall, Heidi Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A. Metcalfe, Lovro Vidmar, Guido de Wert, Wybo Dondorp, Borut Peterlin

    Publicerad 2016
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  12. 12
    A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

    A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unc... av Paul Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Björn Menten, Sandra Janssens, Paul Defoort, Ellen Roets, E Sleurs, Kathelijn Keymolen, Luc De Catte, Jan Deprest, Thomy de Ravel, Hilde Van Esch, J. P. Fryns, Koenraad Devriendt, Joris Vermeesch

    Publicerad 2013
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  13. 13
    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System av Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, Margriet Verstreken, Nicola Strenzke, Friederike Predöhl, Wim Wuyts, Geert Mortier, Maria Bitner‐Glindzicz, Tobias Moser, Paul Coucke, Matthew J. Huentelman, Guy Van Camp

    Publicerad 2016
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  14. 14
    A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

    A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development av Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

    Publicerad 2024
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  15. 15
    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD av Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boél De Paepe, Sami J. Barmada, James Shorter, Jan De Bleecker, Elke Bogaert, Bart Dermaut

    Publicerad 2023
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  16. 16
    47 patients with FLNA associated periventricular nodular heterotopia

    47 patients with FLNA associated periventricular nodular heterotopia av Max Lange, Burkhard S. Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, A. Ferbert, Andreas Hahn, Barbara Oehl‐Jaschkowitz, Luitgard Graul‐Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers‐Renelt, Ana Beleza‐Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Jürgen Winkler, Gerhard Schuierer, Ute Hehr

    Publicerad 2015
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  17. 17
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening av 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

    Publicerad 2021
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  18. 18
    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders av Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, H. Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, C. Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo P. Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

    Publicerad 2018
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  19. 19
    The genetic basis of undiagnosed muscular dystrophies and myopathies

    The genetic basis of undiagnosed muscular dystrophies and myopathies av Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Francesco Mari, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D’Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D’Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, António Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, C. Angelini, Filippo M. Santorelli, Luisa Politano, Claudio Bruno, Giacomo P. Comi, Vincenzo Nigro

    Publicerad 2016
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  20. 20
    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome av Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, David A. Koolen, Andrew J. Sharp, Willy M. Nillesen, Jeffrey W. Innis, Thomy de Ravel, Catherine L. Mercer, Marco Fichera, Helen Stewart, Louise Connell, Katrin Õunap, Katherine Lachlan, B. Castle, Nathalie Van der Aa, Conny van Ravenswaaij, Marcelo A. Nóbrega, Clara Serra‐Juhé, Ingrid Simonic, Nicole de Leeuw, Rolph Pfundt, Ernie M.H.F. Bongers, Carl Baker, P Finnemore, Shuwen Huang, V. Maloney, John A. Crolla, M van Kalmthout, Maurizio Elia, Geert Vandeweyer, J. P. Fryns, Sandra Janssens, Nicola Foulds, S Reitano, Kath Smith, Sven Parkel, Bart Loeys, C. Geoffrey Woods, Anna Oostra, Frank Speleman, Alexandre C. Pereira, Ants Kurg, Lionel Willatt, Samantha J.L. Knight, Joris Vermeesch, Corrado Romano, John Barber, Geert Mortier, Luis Alberto Pérez‐Jurado, R. Frank Kooy, Han G. Brunner, Evan E. Eichler, Tjitske Kleefstra, Bert B.A. de Vries

    Publicerad 2009
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:

Sökverktyg: