Canlyniadau Chwilio - Damien L. Bruno

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  1. 1
    Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction

    Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction gan John Whitlam, Ling Ling, Alison Skene, John Kanellis, F. Ierino, Howard R. Slater, Damien L. Bruno, David A. Power

    Cyhoeddwyd 2018
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  2. 2
    Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

    Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing gan Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L. Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha

    Cyhoeddwyd 2012
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  3. 3
    High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

    High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency gan Sarah E. Calvo, Elena J. Tucker, Alison G. Compton, Denise M. Kirby, Gabriel Crawford, Noël P. Burtt, Manuel A. Rivas, Candace Guiducci, Damien L. Bruno, Olga Goldberger, Michelle C Redman, Esko Wiltshire, Callum Wilson, David Altshuler, Stacey B. Gabriel, Mark J. Daly, David R. Thorburn, Vamsi K. Mootha

    Cyhoeddwyd 2010
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  4. 4
    Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

    Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression gan Elena J. Tucker, Bas F.J. Wanschers, Radek Szklarczyk, Hayley S. Mountford, Xiaonan W. Wijeyeratne, Mariël A.M. van den Brand, A. Meilinde Leenders, Richard J. Rodenburg, Boris Reljić, Alison G. Compton, Ann E. Frazier, Damien L. Bruno, John Christodoulou, Hitoshi Endo, Michael T. Ryan, Leo Nijtmans, Martijn A. Huynen, David R. Thorburn

    Cyhoeddwyd 2013
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  5. 5
    Identification of SOX3 as an XX male sex reversal gene in mice and humans

    Identification of SOX3 as an XX male sex reversal gene in mice and humans gan Edwina Sutton, James Hughes, Stefan J. White, Ryohei Sekido, Jacqueline Tan, Valerie A. Arboleda, Nicholas Rogers, Kevin C. Knower, Lynn Rowley, Helen J. Eyre, Karine Rizzoti, Dale McAninch, João Gonçalves, Jennie Slee, Erin Turbitt, Damien L. Bruno, Henrik Bengtsson, Vincent R. Harley, Éric Vilain, Andrew Sinclair, Robin Lovell‐Badge, Paul Q. Thomas

    Cyhoeddwyd 2010
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  6. 6
    Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

    Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests gan Alison D. Archibald, Melanie Smith, Trent Burgess, Katrina L. Scarff, Justine Elliott, Clare Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Wård, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B. Delatycki, Eppie M. Yiu, John Massie, Mark D. Pertile, Desirée du Sart, Damien L. Bruno, David J. Amor

    Cyhoeddwyd 2017
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  7. 7
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature gan Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Cyhoeddwyd 2013
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  8. 8
    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals gan Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Dietje E. Fransen van de Putte, Britt‐Marie Anderlid, Johanna Lundin, Pablo Lapunzina, L.A. Pérez Jurado, Barbara Delle Chiaie, Bart Loeys, Björn Menten, Anna Oostra, Hélène Verhelst, David J. Amor, Damien L. Bruno, A.J. van Essen, Roel Hordijk, Birgit Sikkema‐Raddatz, K. T. Verbruggen, M.C.J. Jongmans, Rolph Pfundt, H.M. Reeser, M.H. Breuning, Claudia Ruivenkamp

    Cyhoeddwyd 2009
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