Search Results - Jubran Abu‐Rachma

Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome by Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu‐Rachma, Miles D. Thompson, David E.C. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Münnich, Yoshiko Murakami, Denise Horn, Peter Krawitz