Søgeresultater - Study, DDD

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  1. 1
    Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

    Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy af Low, KJ, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S, Smithson, SF

    Udgivet 2018
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  2. 2
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients af Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A.

    Udgivet 2017
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  3. 3
    De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

    De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation af Basilicata, M. Felicia, Bruel, Ange-Line, Semplicio, Giuseppe, Keller Valsecchi, Claudia Isabelle, Aktaş, Tuğçe, Duffourd, Yannis, Rumpf, Tobias, Morton, Jenny, Bache, Iben, Szymanski, Witold G., Gilissen, Christian, Vanakker, Olivier, Õunap, Katrin, Mittler, Gerhard, van der Burgt, Ineke, Chehadeh-Djebbar, Salima El, Cho, Megan T, Pfundt, Rolph, Tan, Tiong Yang, Kirchhoff, Maria, Menten, Björn, Vergult, Sarah, Lindstrom, Kristin, Reis, André, Johnson, Diana S., Fryer, Alan, McKay, Victoria, Study, DDD, Fisher, Richard B., Thauvin-Robinet, Christel, Francis, David, Roscioli, Tony, Pajusalu, Sander, Radtke, Kelly, Ganesh, Jaya, Brunner, Han G., Wilson, Meredith, Faivre, Laurence, Kalscheuer, Vera M., Thevenon, Julien, Akhtar, Asifa

    Udgivet 2018
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