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Published in Cell (24.04.2014)
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Published in Nature genetics (01.03.2017)
Published in Nature genetics (01.03.2017)
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M
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Published in Brain (London, England : 1878) (01.01.2011)
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Eggens, Veerle Rc, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James A R, O'Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles Blm, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank
Published in Orphanet journal of rare diseases (13.02.2014)
Published in Orphanet journal of rare diseases (13.02.2014)
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