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M Bitner-Glindzicz

Showing results (31-40 of 36) with videos related to

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Journal of Medical Genetics|January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM J Houseman, L A Ellis, A Pagnamenta, et al.
Human Genetics|January 26, 2002
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeD Kelberman, J Tyson, D C Chandler, et al.
Nature Genetics|February 1, 1997
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyS Abdelhak, V Kalatzis, R Heilig, et al.
Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.
Nature Genetics|September 6, 2000
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C geneM Bitner-Glindzicz, K J Lindley, P Rutland, et al.
American Journal of Human Genetics|November 25, 2000
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J M Bork, L M Peters, S Riazuddin, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

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Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Journal of Medical Genetics|January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM J Houseman, L A Ellis, A Pagnamenta, et al.
Human Genetics|January 26, 2002
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeD Kelberman, J Tyson, D C Chandler, et al.
Nature Genetics|February 1, 1997
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyS Abdelhak, V Kalatzis, R Heilig, et al.
Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.
Nature Genetics|September 6, 2000
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C geneM Bitner-Glindzicz, K J Lindley, P Rutland, et al.
American Journal of Human Genetics|November 25, 2000
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J M Bork, L M Peters, S Riazuddin, et al.
Pageof 4