Anzahl der Publikationen: 1
Zeitschriftenartikel
Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; Essen, Ton J. van; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; Dijk, Katinke van; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Loennqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; Hoeckel, Ceciel van; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David und Baralle, Diana
(2018):
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
In: Journal of Medical Genetics, Bd. 55, Nr. 2: S. 104-113
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