檢索結果 - Bitner-Glindzicz, Maria

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  1. 1
    Book review

    Book review 由 Bitner-Glindzicz, Maria

    出版 2015
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  2. 2
    Ototoxicity caused by aminoglycosides

    Ototoxicity caused by aminoglycosides 由 Bitner-Glindzicz, Maria, Rahman, Shamima

    出版 2007
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  3. 3
    EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

    EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus 由 Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria

    出版 2013
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  4. 4
    Gentamicin, genetic variation and deafness in preterm children

    Gentamicin, genetic variation and deafness in preterm children 由 Bitner-Glindzicz, Maria, Rahman, Shamima, Chant, Kathy, Marlow, Neil

    出版 2014
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  5. 5
    Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study

    Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study 由 Hall, Amanda, Pembrey, Marcus, Lutman, Mark, Steer, Colin, Bitner-Glindzicz, Maria

    出版 2012
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  6. 6
    Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

    Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts 由 Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria

    出版 2013
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  7. 7
    Clinical utility gene card for: Wolfram syndrome

    Clinical utility gene card for: Wolfram syndrome 由 Moosajee, Mariya, Yu-Wai-Man, Patrick, Rouzier, Cécile, Bitner-Glindzicz, Maria, Bowman, Richard

    出版 2016
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  8. 8
    Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study

    Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study 由 Sanderson, Saskia C., Lewis, Celine, Patch, Christine, Hill, Melissa, Bitner-Glindzicz, Maria, Chitty, Lyn S.

    出版 2018
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  9. 9
    Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

    Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population 由 Ebermann, Inga, Lopez, Irma, Bitner-Glindzicz, Maria, Brown, Carolyn, Karel Koenekoop, Robert, Jörn Bolz, Hanno

    出版 2007
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  10. 10
    Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss

    Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss 由 O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria

    出版 2015
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  11. 11
    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 由 Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann

    出版 2005
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  12. 12
    The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

    The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss 由 Linden Phillips, Luan, Bitner-Glindzicz, Maria, Lench, Nicholas, Steel, Karen P., Langford, Cordelia, Dawson, Sally J., Davis, Adrian, Simpson, Sue, Packer, Claire

    出版 2013
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  13. 13
    Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

    Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study 由 Rahman, Shamima, Ecob, Russell, Costello, Harry, Sweeney, Mary G, Duncan, Andrew J, Pearce, Kerra, Strachan, David, Forge, Andrew, Davis, Adrian, Bitner-Glindzicz, Maria

    出版 2012
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  14. 14
    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 由 Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria

    出版 2013
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  15. 15
    Congenital hearing loss

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

    出版 2017
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  16. 16
    An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

    An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes 由 Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria

    出版 2017
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  17. 17
    Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

    Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases 由 Al Yassin, Amina, D’Arco, Felice, Morín, Matías, Pagarkar, Waheeda, Harrop-Griffiths, Katherine, Shaida, Azhar, Fernández, Elena, Cullup, Tom, De-Souza, Bianca, Moreno-Pelayo, Miguel Angel, Bitner-Glindzicz, Maria

    出版 2019
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  18. 18
    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 由 Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

    出版 2015
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  19. 19
    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 由 Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

    出版 2010
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  20. 20
    STAG3 truncating variant as the cause of primary ovarian insufficiency

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

    出版 2016
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