Søgeresultater - Frank Kooy, R. 

Craniofacial characteristics of fragile X syndrome in mouse and man af Heulens, Inge, Suttie, Michael, Postnov, Andrei, De Clerck, Nora, Perrotta, Concetta S, Mattina, Teresa, Faravelli, Francesca, Forzano, Francesca, Frank Kooy, R, Hammond, Peter

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Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly af Lenski, Claus, Abidi, Fatima, Meindl, Alfons, Gibson, Alice, Platzer, Matthias, Frank Kooy, R., Lubs, Herbert A., Stevenson, Roger E., Ramser, Juliane, Schwartz, Charles E.

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The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior af Lenski, Claus , Frank Kooy, R. , Reyniers, Edwin , Loessner, Daniela , Wanders, Ronald J. A. , Winnepenninckx, Birgitta , Hellebrand, Heide , Engert, Stefanie , Schwartz, Charles E. , Meindl, Alfons , Ramser, Juliane 

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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome af Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A

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