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Maria Bitner-Glindzicz

Showing results (11-20 of 87) with videos related to

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BMC Pediatrics|March 6, 2014
Gentamicin, genetic variation and deafness in preterm childrenMaria Bitner-Glindzicz, Shamima Rahman, Kathy Chant, et al.
Current Opinion in Neurology|January 27, 2009
Update on Usher syndromeZubin Saihan, Andrew R Webster, Linda Luxon, et al.
Experimental Eye Research|March 11, 2014
The effect of the common c.2299delG mutation in USH2A on RNA splicingEva Lenassi, Zubin Saihan, Maria Bitner-Glindzicz, et al.
BMJ Open|August 3, 2012
Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population studyAmanda Hall, Marcus Pembrey, Mark Lutman, et al.
BMC Medical Genetics|August 23, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueductsPriya Landa, Ann-Marie Differ, Kaukab Rajput, et al.
European Journal of Human Genetics : EJHG|May 26, 2016
Clinical utility gene card for: Wolfram syndromeMariya Moosajee, Patrick Yu-Wai-Man, Cécile Rouzier, et al.
JAMA Ophthalmology|December 19, 2014
Clinical heterogeneity in a family with mutations in USH2AEva Lenassi, Anthony G Robson, Linda M Luxon, et al.
Cardiovascular Research|June 7, 2005
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1)Andrew J Wilson, Kathryn V Quinn, Fiona M Graves, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Kantaputra mesomelic dysplasia: a second reported familyDeborah J Shears, Amaka Offiah, Paul Rutland, et al.
Investigative Ophthalmology & Visual Science|October 28, 2008
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypesSoo Park, Yalda Jamshidi, Daniela Vaideanu, et al.
Pageof 9

Showing results (11-20 of 87) with videos related to

Sort By:
Pageof 9
BMC Pediatrics|March 6, 2014
Gentamicin, genetic variation and deafness in preterm childrenMaria Bitner-Glindzicz, Shamima Rahman, Kathy Chant, et al.
Current Opinion in Neurology|January 27, 2009
Update on Usher syndromeZubin Saihan, Andrew R Webster, Linda Luxon, et al.
Experimental Eye Research|March 11, 2014
The effect of the common c.2299delG mutation in USH2A on RNA splicingEva Lenassi, Zubin Saihan, Maria Bitner-Glindzicz, et al.
BMJ Open|August 3, 2012
Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population studyAmanda Hall, Marcus Pembrey, Mark Lutman, et al.
BMC Medical Genetics|August 23, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueductsPriya Landa, Ann-Marie Differ, Kaukab Rajput, et al.
European Journal of Human Genetics : EJHG|May 26, 2016
Clinical utility gene card for: Wolfram syndromeMariya Moosajee, Patrick Yu-Wai-Man, Cécile Rouzier, et al.
JAMA Ophthalmology|December 19, 2014
Clinical heterogeneity in a family with mutations in USH2AEva Lenassi, Anthony G Robson, Linda M Luxon, et al.
Cardiovascular Research|June 7, 2005
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1)Andrew J Wilson, Kathryn V Quinn, Fiona M Graves, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Kantaputra mesomelic dysplasia: a second reported familyDeborah J Shears, Amaka Offiah, Paul Rutland, et al.
Investigative Ophthalmology & Visual Science|October 28, 2008
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypesSoo Park, Yalda Jamshidi, Daniela Vaideanu, et al.
Pageof 9