نتائج البحث - Bitner-Glindzicz, Maria

Book review حسب Bitner-Glindzicz, Maria

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

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

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

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

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

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

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

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

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

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

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

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

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

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Congenital hearing loss حسب 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.

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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes حسب 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

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

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

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

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STAG3 truncating variant as the cause of primary ovarian insufficiency حسب 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

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