Genetics of neuromuscular fetal akinesia in the genomics era
Beecroft, Sarah Jane, Lombard, Marcus, Mowat, David, McLean, Catriona, Cairns, Anita, Davis, Mark, Laing, Nigel G, Ravenscroft, Gianina
Published in Journal of medical genetics (01.08.2018)
Published in Journal of medical genetics (01.08.2018)
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Journal Article
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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