खोज परिणाम - Delon, Isabelle

  • प्रदर्शित 1 - 7 परिणाम 7
परिणाम को परिष्कृत करें
  1. 1
    The integrin adhesion complex changes its composition and function during morphogenesis of an epithelium

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

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  2. 2
    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

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

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  3. 3
    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data द्वारा 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.

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  4. 4
    Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

    Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood द्वारा 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

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  5. 5
    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing द्वारा 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.

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  6. 6
    Closing the tau loop: the missing tau mutation

    Closing the tau loop: the missing tau mutation द्वारा 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

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  7. 7
    Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

    Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency द्वारा 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.

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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