Torthaí cuardaigh - Annelies Dheedene

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  1. 1
    WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

    WisecondorX: improved copy number detection for routine shallow whole-genome sequencing de réir Lennart Raman, Annelies Dheedene, Matthias De Smet, Jo Van Dorpe, Björn Menten

    Foilsithe / Cruthaithe 2018
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  2. 2
    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 de réir Sarah Vergult, Annelies Dheedene, Alfred Meurs, Fran Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, Björn Menten

    Foilsithe / Cruthaithe 2014
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  3. 3
    Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

    Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans de réir Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hülya Kayserili, Paul Coucke

    Foilsithe / Cruthaithe 2013
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  4. 4
    ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

    ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation de réir Tom Sante, Sarah Vergult, Pieter‐Jan Volders, Wigard P. Kloosterman, Geert Trooskens, Katleen De Preter, Annelies Dheedene, Frank Speleman, Tim De Meyer, Björn Menten

    Foilsithe / Cruthaithe 2014
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  5. 5
    Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?

    Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing? de réir Mina Popovic, Annelies Dheedene, Christina Christodoulou, Jasin Taelman, L Dhaenens, Filip Van Nieuwerburgh, Dieter Deforce, E. Van den Abbeel, Petra De Sutter, Björn Menten, Björn Heindryckx

    Foilsithe / Cruthaithe 2018
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  6. 6
    Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

    Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts de réir Lieselot Deleye, Annelies Dheedene, Dieter De Coninck, Tom Sante, Christodoulos Christodoulou, Björn Heindryckx, E. Van den Abbeel, Petra De Sutter, Dieter Deforce, Björn Menten, Filip Van Nieuwerburgh

    Foilsithe / Cruthaithe 2015
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  7. 7
    Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

    Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method de réir Lieselot Deleye, Dieter De Coninck, Christodoulos Christodoulou, Tom Sante, Annelies Dheedene, Björn Heindryckx, E. Van den Abbeel, Petra De Sutter, Björn Menten, Dieter Deforce, Filip Van Nieuwerburgh

    Foilsithe / Cruthaithe 2015
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  8. 8
    Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testosterone treatment for fertility preservation in transgender men

    Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testo... de réir Sylvie Lierman, Annelies Tolpe, Ilse De Croo, Stefanie De Gheselle, Justine Defreyne, Machteld Baetens, Annelies Dheedene, Roos Colman, Björn Menten, Guy T’Sjoen, Petra De Sutter, Kelly Tilleman

    Foilsithe / Cruthaithe 2021
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  9. 9
    Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

    Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients de réir Nadine Van Roy, Malaïka Van Der Linden, Björn Menten, Annelies Dheedene, Charlotte Vandeputte, Jo Van Dorpe, Geneviève Laureys, Marleen Renard, Tom Sante, Tim Lammens, Bram De Wilde, Frank Speleman, Katleen De Preter

    Foilsithe / Cruthaithe 2017
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  10. 10
    Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

    Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment de réir Lisa Hamerlinck, Eva D’haene, Nore Van Loon, Michael Vaughan, María del Rocío Pérez Baca, Sebastian Leimbacher, Lara Colombo, Lies Vantomme, Esperanza Daal, Annelies Dheedene, Himanshu Goel, Björn Menten, Bert Callewaert, Sarah Vergult

    Foilsithe / Cruthaithe 2025
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  11. 11
    A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

    A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment de réir Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki, Friederike Predoehl, Mohammad Amin Tabatabaiefar, Maria Magdalena Picher, Manou Sommen, Celia Zazo Seco, Jaap Oostrik, Hannie Kremer, Annelies Dheedene, Charlotte Claes, Erik Fransén, Morteza Hashemzadeh Chaleshtori, Paul Coucke, Amy Lee, Tobias Moser, Guy Van Camp

    Foilsithe / Cruthaithe 2012
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  12. 12
    A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

    A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene de réir María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Bart Demaut, Bekim Sadiković, Björn Menten, Bo Yuan, Sarah Vergult, Bert Callewaert

    Foilsithe / Cruthaithe 2023
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  13. 13
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening de réir 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

    Foilsithe / Cruthaithe 2021
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  14. 14
    Redefining the MED13L syndrome

    Redefining the MED13L syndrome de réir Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patrı́cia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker‐Minh, Cédric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker, Björn Menten, Annelies Dheedene, Nele Bockaert, Filip Roelens, Karin Decaestecker, João Silva, Gabriela Soares, Fátima Lopes, Hossein Najmabadi, Kimia Kahrizi, Gerald F. Cox, Steven P. Angus, John F. Staropoli, Ute Fischer, Vanessa Suckow, Oliver Bartsch, Andrew Chess, Hans‐Hilger Ropers, Thomas F. Wienker, Christoph Hübner, Angela M. Kaindl, Vera M. Kalscheuer

    Foilsithe / Cruthaithe 2015
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  15. 15
    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta de réir Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Véronique Geoffroy, Jean Muller, François Clauss, Megana Prasad, Frédéric Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, S. Soskin, Éric Mathieu, Joseph Hemmerlé, Jean‐Luc Weickert, Branka Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie‐Claude Cholette, Ross McLeod, Reynaldo Antequera, Marie-Paule Gellé, Jean-Louis Coeuriot, L. F. Jacquelin, Isabelle Bailleul‐Forestier, Marie‐Cécile Manière, Wim Van Hul, Débora Romeo Bertola, Pascal Dollé, Alain Verloès, Geert Mortier, Hélène Dollfus, Agnès Bloch‐Zupan

    Foilsithe / Cruthaithe 2015
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  16. 16
    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity de réir Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert

    Foilsithe / Cruthaithe 2017
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  17. 17
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies de réir Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    Foilsithe / Cruthaithe 2016
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  18. 18
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability de réir María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    Foilsithe / Cruthaithe 2024
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