Výsledky vyhledávání - Delon, Isabelle

The integrin adhesion complex changes its composition and function during morphogenesis of an epithelium Autor Delon, Isabelle, Brown, Nicholas H.

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children Autor French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data Autor Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood Autor French, Courtney E., Dolling, Helen, Mégy, Karyn, Sanchis-Juan, Alba, Kumar, Ajay, Delon, Isabelle, Wakeling, Matthew, Mallin, Lucy, Agrawal, Shruti, Austin, Topun, Walston, Florence, Park, Soo-Mi, Parker, Alasdair, Piyasena, Chinthika, Bradbury, Kimberley, Ellard, Sian, Rowitch, David H., Raymond, F. Lucy

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing Autor Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.

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Closing the tau loop: the missing tau mutation Autor McCarthy, Allan, Lonergan, Roisin, Olszewska, Diana A., O’Dowd, Sean, Cummins, Gemma, Magennis, Brian, Fallon, Emer M., Pender, Niall, Huey, Edward D., Cosentino, Stephanie, O’Rourke, Killian, Kelly, Brendan D., O’Connell, Martin, Delon, Isabelle, Farrell, Michael, Spillantini, Maria Grazia, Rowland, Lewis P., Fahn, Stanley, Craig, Peter, Hutton, Michael, Lynch, Tim

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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency Autor Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert, Poulton, Joanna, Ryan, Michael T., Wittig, Ilka, Henneke, Marco, Taylor, Robert W.

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