Ohcanbohtosat - Maria Bitner‐Glindzicz

Aiddostahte ozu
  1. 1
    Hereditary deafness and phenotyping in humans

    Hereditary deafness and phenotyping in humans Dahkki Maria Bitner‐Glindzicz

    Almmustuhtton 2002
    Viečča ollesdeavstta Viečča ollesdeavstta
    Revisão
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  2. 2
    Ototoxicity caused by aminoglycosides

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

    Almmustuhtton 2007
    Viečča ollesdeavstta
    Editorial
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  3. 3
    Prevalence of Mitochondrial 1555A→G Mutation in European Children

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

    Almmustuhtton 2009
    Viečča ollesdeavstta Viečča ollesdeavstta
    Carta
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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 Dahkki Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada

    Almmustuhtton 2005
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    Almmustuhtton 2013
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  6. 6
    Congenital hearing loss

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

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Revisão
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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 Dahkki 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

    Almmustuhtton 1997
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2006
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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> Dahkki 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

    Almmustuhtton 1995
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2010
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2009
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2005
    Viečča ollesdeavstta
    Artigo
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  15. 15
    The Jervell and Lange-Nielsen Syndrome

    The Jervell and Lange-Nielsen Syndrome Dahkki 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

    Almmustuhtton 2006
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2011
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2014
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2016
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    Artigo
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