Resultados de búsqueda - Pernille Mathiesen Tørring

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  1. 1
    Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

    Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia por Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Henrik Nissen, Poul Erik Andersen

    Publicado 2013
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  2. 2
    Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia

    Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia por Claire L. Shovlin, Carolyn M. Millar, Freya Droege, Anette Drøhse Kjeldsen, Guido Manfredi, Patrizia Suppressa, Sara Ugolini, Nicole Coote, Annette Dam Fialla, Urban W. Geisthoff, Gennaro M. Lenato, Hans-Jurgen Mager, Fabio Pagella, Martijn C. Post, Carlo Sabbà, Ulrich Sure, Pernille Mathiesen Tørring, Sophie Dupuis‐Girod, Elisabetta Buscarini

    Publicado 2019
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  3. 3
    The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care

    The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care por Claire L. Shovlin, Elisabetta Buscarini, Carlo Sabbà, Hans Jurgen Mager, Anette Drøhse Kjeldsen, Fabio Pagella, Ulrich Sure, Sara Ugolini, Pernille Mathiesen Tørring, Patrizia Suppressa, Catherine Rennie, Martijn C. Post, Mitesh Patel, Troels Halfeld Nielsen, Guido Manfredi, Gennaro M. Lenato, David Lefroy, Ujwal Kariholu, Bryony A. Jones, Annette Dam Fialla, Omer Eker, Olivier Dupuis, Freya Droege, Nicole Coote, Edoardo Boccardi, Ali Alsafi, Saverio Alicante, Sophie Dupuis‐Girod

    Publicado 2021
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  4. 4
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction por Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Strømme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez‐Buritica, Laura S. Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray‐Pedersen, Pascal Chambon, Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries

    Publicado 2017
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  5. 5
    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 por 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

    Publicado 2024
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