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Displaying 2 results.

- Journal article
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout, Sara Jansen, Sandra Haesen, Dorien van Belle, Siska de Munnik, Sonja A Bongers, Ernie M H F Schieving, Jolanda H Marcelis, Carlo Amiel, Jeanne Rio, Marlène Mclaughlin, Heather Ladda, Roger Sell, Susan Kriek, Marjolein Peeters-Scholte, Cacha M P C D Terhal, Paulien A van Gassen, Koen L Verbeek, Nienke Henry, Sonja Scott Schwoerer, Jessica Malik, Saleem Revencu, Nicole[UCL] Ferreira, Carlos R Macnamara, Ellen Braakman, Hilde M H Brimble, Elise Ruzhnikov, Maura R Z Wagner, Matias Harrer, Philip Wieczorek, Dagmar Kuechler, Alma Tziperman, Barak Barel, Ortal de Vries, Bert B A Gordon, Christopher T Janssens, Veerle Vissers, Lisenka E L M (2019) American journal of human genetics — Vol. 104, no. 1, p. 139-156 (2019)
- Journal article
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
Vergult, Sarah Hoogeboom, A Jeannette M Bijlsma, Emilia K Sante, Tom Klopocki, Eva De Wilde, Bram Jongmans, Marjolijn Thiel, Christian Verheij, Joke B G M Perez-Aytes, Antonio Van Esch, Hilde Kuechler, Alma Barge-Schaapveld, Daniela Q C M Sznajer, Yves[UCL] Mortier, Geert Menten, Björn (2013) Genetics in Medicine — Vol. 15, no.3, p. 195-202 (2013)