Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Bonnin, Edith, Cabochette, Pauline, Filosa, Alessandro, Jühlen, Ramona, Komatsuzaki, Shoko, Hezwani, Mohammed, Dickmanns, Achim, Martinelli, Valérie, Vermeersch, Marjorie, Supply, Lynn, Martins, Nuno, Pirenne, Laurence, Ravenscroft, Gianina, Lombard, Marcus, Port, Sarah, Spillner, Christiane, Janssens, Sandra, Roets, Ellen, Van Dorpe, Jo, Lammens, Martin, Kehlenbach, Ralph H, Ficner, Ralf, Laing, Nigel G, Hoffmann, Katrin, Vanhollebeke, Benoit, Fahrenkrog, Birthe
Published in PLoS genetics (13.12.2018)
Published in PLoS genetics (13.12.2018)
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Journal Article
Mutations in nucleoporin NUP88 cause lethal neuromuscular disorder
Bonnin, Edith, Cabochette, Pauline, Filosa, Alessandro, Juehlen, Ramona, Komatsuzaki, Shoko, Hezwani, Mohammed, Dickmanns, Achim, Martinelli, Valerie, Vermeersch, Marjorie, Supply, Lynn, Martins, Nuno, Pirenne, Laurence, Ravenscroft, Gianina, Lombard, Marcus, Port, Sarah A, Spillner, Christiane, Janssens, Sandra, Roets, Ellen, Jo Van Dorpe, Lammens, Martin, Kehlenbach, Ralph H, Ficner, Ralf, Laing, Nigel, Hoffmann, Katrin, Vanhollebeke, Benoit, Fahrenkrog, Birthe
Published in bioRxiv (14.08.2018)
Published in bioRxiv (14.08.2018)
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