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M Bitner-Glindzicz

Showing results (11-20 of 36) with videos related to

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Journal of Medical Genetics|August 10, 2001
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian familiesS Rickard, D P Kelsell, T Sirimana, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|November 6, 2008
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi populationY Bajaj, T Sirimanna, D M Albert, et al.
International Journal of Pediatric Otorhinolaryngology|October 19, 2004
Guidelines and recommendations for testing of Cx26 mutations and interpretation of resultsM Mazzoli, V Newton, A Murgia, et al.
Clinical Genetics|April 22, 2004
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafnessD Shears, H Conlon, T Murakami, et al.
Journal of Medical Genetics|April 3, 2001
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairmentT P Hutchin, K R Thompson, M Parker, et al.
Human Molecular Genetics|December 1, 1996
Mapping of DFN2 to Xq22J Tyson, S Bellman, V Newton, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|May 6, 2009
Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity aloneY Bajaj, T Sirimanna, D M Albert, et al.
Human Genetics|June 21, 2001
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard, M Parker, W van't Hoff, et al.
Clinical and Experimental Dermatology|October 4, 2005
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)J E A Common, M Bitner-Glindzicz, E A O'Toole, et al.
Clinical Genetics|January 10, 2001
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndromeB B de Vries, M Bitner-Glindzicz, S J Knight, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|August 10, 2001
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian familiesS Rickard, D P Kelsell, T Sirimana, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|November 6, 2008
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi populationY Bajaj, T Sirimanna, D M Albert, et al.
International Journal of Pediatric Otorhinolaryngology|October 19, 2004
Guidelines and recommendations for testing of Cx26 mutations and interpretation of resultsM Mazzoli, V Newton, A Murgia, et al.
Clinical Genetics|April 22, 2004
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafnessD Shears, H Conlon, T Murakami, et al.
Journal of Medical Genetics|April 3, 2001
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairmentT P Hutchin, K R Thompson, M Parker, et al.
Human Molecular Genetics|December 1, 1996
Mapping of DFN2 to Xq22J Tyson, S Bellman, V Newton, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|May 6, 2009
Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity aloneY Bajaj, T Sirimanna, D M Albert, et al.
Human Genetics|June 21, 2001
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard, M Parker, W van't Hoff, et al.
Clinical and Experimental Dermatology|October 4, 2005
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)J E A Common, M Bitner-Glindzicz, E A O'Toole, et al.
Clinical Genetics|January 10, 2001
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndromeB B de Vries, M Bitner-Glindzicz, S J Knight, et al.
Pageof 4