Arama Sonuçları - Delon, Isabelle

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

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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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