תוצאות חיפוש - Yvette van Ierland

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  1. 1
    Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

    Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders מאת Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel–Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L. T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J. M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen‐Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham

    יצא לאור 2023
    קבל טקסט מלא
    Artigo
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  2. 2
    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders מאת Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant, Anne O’Donnell‐Luria, Zaheer M. Valivullah, Alysia Kern Lovgren, Elaina M. England, Emanuele Agolini, Jill A. Madden, Klaus Schmitz‐Abe, Amy Kritzer, Pamela Hawley, Antonio Novelli, Paolo Alfieri, Giovanna Stefania Colafati, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Margarete Koch‐Hogrebe, Rami Abou Jamra, Juanita Neira‐Fresneda, Anna Lehman, Cornelius F. Boerkoel, Kimberly Seath, Lorne A. Clarke, Yvette van Ierland, Emanuela Argilli, Elliott H. Sherr, Andrea Maiorana, Thilo Diel, Maja Hempel, Tatjana Bierhals, Raúl Estévez, Thomas J. Jentsch, Michael Pusch, Pankaj B. Agrawal

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction מאת Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy מאת Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome מאת Linda A.J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Høberg‐Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J.W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke‐Lange, Violetta Anastasiadou, Chrystelle Colas, Marie‐Charlotte Villy, Patrick R. Benusiglio, А. В. Герасименко, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, Mustafa Ömer Yazıcıoğlu, Rachel S. van der Post, Janneke Schuurs-Hoeijmakers, Liselotte P. van Hest, Muriel A. Adank, Floor A.M. Duijkers, Maartje Nielsen, Katja C J Verbeek, Yvette van Ierland, Jacques C. Giltay, Janet R. Vos, Janet R. Vos

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant... מאת Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio, Ana Vega, Logan C. Walker, Yvette van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen, Philip J. Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas van Overeem Hansen, Raquel Behar, kConFab Investigators, Diether Niederacher, Norbert Arnold, Bernd Dworniczak, Doris Steinemann, Ulrike Faust, Wendy S. Rubinstein, Peter J. Hulick, Claude Houdayer, Sandrine M. Caputo, Laurent Castéra, Tina Pesaran, Elizabeth Chao, Carole Brewer, Melissa C. Southey, Christi J. van Asperen, Christian F. Singer, Jan Sullivan, Nicola Poplawski, Phuong Mai, Julian Peto, Nichola Johnson, Barbara Burwinkel, Harald Surowy, Stig E. Bojesen, Henrik Flyger, Annika Lindblom, Sara Margolin, Jenny Chang‐Claude, Anja Rudolph, Paolo Radice, Laura Galastri, Janet E. Olson, Emily Hallberg, Graham G. Giles, Roger L. Milne, Irene L. Andrulis, Gord Glendon, Per Hall, Kamila Czene, Fiona M. Blows, Mitul Shah, Qin Wang, Joe Dennis, Kyriaki Michailidou, Lesley McGuffog, Manjeet K. Bolla, Antonis C. Antoniou, Douglas F. Easton, Fergus J. Couch, Sean V. Tavtigian, Maaike P.G. Vreeswijk, Michael T. Parsons, Huong Meeks, Alexandra Martins, David E. Goldgar, Amanda B. Spurdle

    יצא לאור 2016
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    Artigo
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