תוצאות חיפוש - Arjan PM de Brouwer

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  1. 1
    X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation מאת Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B. Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck‐Wödl, Sander B. Nabuurs, André B. P. Kuilenburg, Arjan PM de Brouwer, Lüdger Schöls

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  2. 2
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome מאת Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    יצא לאור 2009
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway מאת Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain, Joris H. Robben, Eiko K. de Jong, Arjan Pm de Brouwer, Esther Nibbeling, Erik‐Jan Kamsteeg, Melanie Wong, Julie Prendiville, Chela James, Raja Padidela, Charlie Becknell, Hans van Bokhoven, Peter M.T. Deen, Raoul C. M. Hennekam, Robert Lindeman, Annette Schenck, Tony Roscioli, Michael F. Buckley

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
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  4. 4
    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder מאת Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut‐Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R.H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  5. 5
    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype מאת Bregje W.M. van Bon, David A. Koolen, Louise Brueton, Dominic McMullan, Klaske D. Lichtenbelt, Lesley C. Adès, Gregory B. Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, F Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan Pm de Brouwer, Joris A. Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, S Reitano, D Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

    יצא לאור 2009
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    Development of a genotyping microarray for Usher syndrome

    Development of a genotyping microarray for Usher syndrome מאת F.P.M. Cremers, William J. Kimberling, Maigi Külm, Arjan Pm de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W. R. J. Cremers, Lies H. Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes Fleischhauer, Wolfgang Berger, Phillip M. Kelley, Elene Haralambous, Maria Bitner‐Glindzicz, Andrew R. Webster, Zubin Saihan, Elfride De Baere, Bart Leroy, Giuliana Silvestri, Gareth J. McKay, Robert K. Koenekoop, José M. Millán, Thomas Rosenberg, Tarja Joensuu, Eeva‐Marja Sankila, Dominique Weil, Michael D. Weston, Bernd Wissinger, Hannie Kremer

    יצא לאור 2006
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases מאת Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed Al‐Owain, Hamad Alzaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K. Chung, Roberto Colombo, Niklas Darín, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grünewald, Tobias B. Haack, Peter M. van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Réka Kovács-Nagy, Zita Krūmiņa, Elena Martín‐Hernández, Johannes A. Mayr, Patricia McClean, Linda De Meırleır, K Naess, Lock Hock Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa G. Riley, Benjamin Röeben, Frank Rutsch, René Santer, Manuel Schiff, Martine Seders, Sílvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W. Taylor, Joanna Trubicka, Konstantinos Tsiakas, Özlem Ünal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Éva Morava, Ewa Pronicka, Ron A. Wevers, Arjan Pm de Brouwer, Saskia B. Wortmann

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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