Risultati della ricerca - Maria Bitner‐Glindzicz

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  1. 1
    Hereditary deafness and phenotyping in humans

    Hereditary deafness and phenotyping in humans di Maria Bitner‐Glindzicz

    Pubblicazione 2002
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  2. 2
    Ototoxicity caused by aminoglycosides

    Ototoxicity caused by aminoglycosides di Maria Bitner‐Glindzicz, Shamima Rahman

    Pubblicazione 2007
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  3. 3
    Prevalence of Mitochondrial 1555A→G Mutation in European Children

    Prevalence of Mitochondrial 1555A→G Mutation in European Children di Maria Bitner‐Glindzicz, Marcus Pembrey, Andrew Duncan, Jon Heron, Susan M. Ring, Amanda Hall, Shamima Rahman

    Pubblicazione 2009
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  4. 4
    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion di Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada

    Pubblicazione 2005
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  5. 5
    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing di Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    Pubblicazione 2013
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  6. 6
    Congenital hearing loss

    Congenital hearing loss di Anna M.H. Korver, Richard J. Smith, Guy Van Camp, Mark R. Schleiss, Maria Bitner‐Glindzicz, Lawrence R. Lustig, Shin‐ichi Usami, An Boudewyns

    Pubblicazione 2017
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  7. 7
    IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

    IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome di Jess Tyson, Lisbeth Tranebjærg, S. Bellman, Christopher Wren, J F Taylor, Jørn Bathen, Bjørn Aslaksen, Svein Sörland, Ole Lund, S Malcolm, Marcus Pembrey, S. K. Bhattacharya, Maria Bitner‐Glindzicz

    Pubblicazione 1997
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  8. 8
    Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

    Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma di A. T. Pagnamenta, Jan‐Willem Taanman, Callum Wilson, Neil E. Anderson, Rosetta Marotta, A. J. Duncan, Maria Bitner Glindzicz, Rachael W. Taylor, Adrienne Laskowski, David R. Thorburn, S. Rahman

    Pubblicazione 2006
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  9. 9
    STAG3 truncating variant as the cause of primary ovarian insufficiency

    STAG3 truncating variant as the cause of primary ovarian insufficiency di Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

    Pubblicazione 2015
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  10. 10
    Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i>

    Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i> di Yvette J.M. de Kok, Silvère M. van der Maarel, Maria Bitner‐Glindzicz, I Huber, Anthony P. Monaco, S Malcolm, Marcus Pembrey, Hans‐Hilger Ropers, Frans P.M. Cremers

    Pubblicazione 1995
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  11. 11
    FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

    FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy di Elisa Fassone, Andrew Duncan, Jan‐Willem Taanman, Alistair T. Pagnamenta, Michael I. Sadowski, Tatjana Holand, Waseem Qasim, Paul Rutland, Sarah E. Calvo, Vamsi K. Mootha, Maria Bitner‐Glindzicz, Shamima Rahman

    Pubblicazione 2010
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  12. 12
    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants di Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J. Coffey, Heather B. Steele-Stallard, Anthony T. Moore, Karen P. Steel, Linda Luxon, Elise Héon, Maria Bitner‐Glindzicz, Andrew R. Webster

    Pubblicazione 2015
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  13. 13
    A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

    A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease di Andrew Duncan, Maria Bitner‐Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luís C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Peter T. Clayton, Shamima Rahman

    Pubblicazione 2009
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  14. 14
    De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

    De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure di Dagan Jenkins, Maria Bitner‐Glindzicz, Sue Malcolm, Chih‐Chi Andrew Hu, Jennifer Allison, Paul J.D. Winyard, Ambrose Gullett, David F. Thomas, Rachel Belk, Sally Feather, Tung‐Tien Sun, Adrian S. Woolf

    Pubblicazione 2005
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  15. 15
    The Jervell and Lange-Nielsen Syndrome

    The Jervell and Lange-Nielsen Syndrome di Peter J. Schwartz, Carla Spazzolini, Lia Crotti, Jørn Bathen, Jan Amlie, Katherine W. Timothy, M. А. Shkolnikova, Charles I. Berul, Maria Bitner‐Glindzicz, Lauri Toivonen, Minoru Horie, Eric Schulze‐Bahr, Isabelle Denjoy

    Pubblicazione 2006
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  16. 16
    SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

    SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 di Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sérgio B. Sousa, Dagan Jenkins, Peter T. Clayton, Maria Bitner‐Glindzicz, Gudrun E. Moore, W. Mike Henne, Philip Stanier

    Pubblicazione 2018
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  17. 17
    Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study di Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B. Steele-Stallard, John C. Ambrose, Alison J. Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P. Steel, Linda Luxon, Andrew R. Webster, Maria Bitner‐Glindzicz

    Pubblicazione 2011
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  18. 18
    Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

    Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children di Lamia Mestek, Emma Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria Bitner‐Glindzicz, Mark Peters, Philip L. Beales, Hywel Williams

    Pubblicazione 2018
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  19. 19
    Mutation of SALL2 causes recessive ocular coloboma in humans and mice

    Mutation of SALL2 causes recessive ocular coloboma in humans and mice di Daniel Kelberman, Lily Islam, Jörn Lakowski, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, AmitP Patel, Elia Stupka, A. Buck, Stephan Wolf, Philip L. Beales, Thomas S. Jacques, Maria Bitner‐Glindzicz, Alki Liasis, Ordan J. Lehmann, Jürgen Kohlhase, Ken K. Nischal, Jane C. Sowden

    Pubblicazione 2014
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  20. 20
    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System di Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, Margriet Verstreken, Nicola Strenzke, Friederike Predöhl, Wim Wuyts, Geert Mortier, Maria Bitner‐Glindzicz, Tobias Moser, Paul Coucke, Matthew J. Huentelman, Guy Van Camp

    Pubblicazione 2016
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