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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
Zeitschriftenartikel
O'Neill, Adam C.; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J.; Kirk, Edwin P.; Fry, Andrew; Pilz, Daniela T.; Morgan, Tim; Jenkins, Zandra A.; Drukker, Micha; Berkovic, Samuel F.; Scheffer, Ingrid E.; Guerrini, Renzo; Markie, David M.; Götz, Magdalena; Cappello, Silvia und Robertson, Stephen P.
(2018):
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
In: Cell Reports, Bd. 25, Nr. 10: S. 2729-2741
[PDF, 6MB]
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
[PDF, 1MB]
Rivera, Barbara; Gayden, Tenzin; Carrot-Zhang, Jian; Nadaf, Javad; Boshari, Talia; Faury, Damien; Zeinieh, Michele; Blanc, Romeo; Burk, David L.; Fahiminiya, Somayyeh; Bareke, Eric; Schüller, Ulrich; Monoranu, Camelia M.; Sträter, Ronald; Kerl, Kornelius; Niederstadt, Thomas; Kurlemann, Gerhard; Ellezam, Benjamin; Michalak, Zuzanna; Thom, Maria; Lockhart, Paul J.; Leventer, Richard J.; Ohm, Milou; MacGregor, Duncan; Jones, David; Karamchandani, Jason; Greenwood, Celia M. T.; Berghuis, Albert M.; Bens, Susanne; Siebert, Reiner; Zakrzewska, Magdalena; Liberski, Pawel P.; Zakrzewski, Krzysztof; Sisodiya, Sanjay M.; Paulus, Werner; Albrecht, Steffen; Hasselblatt, Martin; Jabado, Nada; Foulkes, William D. und Majewski, Jacek
(2016):
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
In: Acta Neuropathologica, Bd. 131, Nr. 6: S. 847-863