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You searched for: Author/Creator Bitner-Glindzicz, Maria

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1. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017)

2. Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. (30th January 2020)

3. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Issue 1 (1st December 2011)

4. Development of a genotyping microarray for Usher syndrome. Issue 2 (8th September 2006)

6. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. Issue 1 (1st January 2001)

7. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014)

9. Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. Issue 1 (5th January 2012)

10. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013)