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Human Molecular Genetics|August 1, 1996
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian familyT Fagerheim, O Nilssen, P Raeymaekers, et al.
Journal of Medical Genetics|March 2, 1999
Homozygosity mapping to the USH2A locus in two isolated populationsT Fagerheim, P Raeymaekers, J Merren, et al.
Genomics|October 1, 1993
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92S Heuertz, M Nelen, A O Wilkie, et al.
Scientific Reports|August 5, 2022
A pro-inflammatory and fibrous cap thinning transcriptome profile accompanies carotid plaque rupture leading to strokeHernan A Bazan, Ashton J Brooks, Kenny Vongbunyong, et al.
Clinical Dysmorphology|November 14, 1997
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndromeJ Clayton-Smith, B Kerr, H Brunner, et al.
American Journal of Human Genetics|June 13, 2001
A common ancestral origin of the frequent and widespread 2299delG USH2A mutationB Dreyer, L Tranebjaerg, V Brox, et al.
American Journal of Medical Genetics|March 1, 1994
Clinical diagnosis of the Usher syndromes. Usher Syndrome ConsortiumR J Smith, C I Berlin, J F Hejtmancik, et al.
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