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Molecular and Cellular Probes
|
February 1, 1995
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
J M Millán, S Fuchs, N Paricio, et al.
The British Journal of Ophthalmology
|
August 1, 1993
Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin
E Apfelstedt-Sylla, M Kunisch, M Horn, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
March 27, 2007
[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
C N Keilhauer, A Gal, J E Sold, et al.
American Journal of Human Genetics
|
June 1, 1987
A 45,X male with Y-specific DNA translocated onto chromosome 15
A Gal, B Weber, G Neri, et al.
Archives of Otolaryngology--Head & Neck Surgery
|
June 19, 2001
High tumor grade in salivary gland mucoepidermoid carcinomas and loss of expression of transforming growth factor beta receptor type II
D G Dillard, S Muller, C Cohen, et al.
Human Mutation
|
January 1, 1996
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
S Fuchs, D van de Pol, U Beudt, et al.
Human Molecular Genetics
|
July 1, 1993
Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)
R Kumar-Singh, G J Farrar, F Mansergh, et al.
Human Mutation
|
January 1, 1995
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications
H S Scott, S Bunge, A Gal, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II
S Bunge, M Rathmann, C Steglich, et al.
Lancet (London, England)
|
July 11, 1998
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa
S Gu, A Lennon, Y Li, et al.
Page
of 49
Search research articles
Search
Showing results (301-310 of 488) with videos related to
Sort By:
Page
of 49
Molecular and Cellular Probes
|
February 1, 1995
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
J M Millán, S Fuchs, N Paricio, et al.
The British Journal of Ophthalmology
|
August 1, 1993
Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin
E Apfelstedt-Sylla, M Kunisch, M Horn, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
March 27, 2007
[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
C N Keilhauer, A Gal, J E Sold, et al.
American Journal of Human Genetics
|
June 1, 1987
A 45,X male with Y-specific DNA translocated onto chromosome 15
A Gal, B Weber, G Neri, et al.
Archives of Otolaryngology--Head & Neck Surgery
|
June 19, 2001
High tumor grade in salivary gland mucoepidermoid carcinomas and loss of expression of transforming growth factor beta receptor type II
D G Dillard, S Muller, C Cohen, et al.
Human Mutation
|
January 1, 1996
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
S Fuchs, D van de Pol, U Beudt, et al.
Human Molecular Genetics
|
July 1, 1993
Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)
R Kumar-Singh, G J Farrar, F Mansergh, et al.
Human Mutation
|
January 1, 1995
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications
H S Scott, S Bunge, A Gal, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II
S Bunge, M Rathmann, C Steglich, et al.
Lancet (London, England)
|
July 11, 1998
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa
S Gu, A Lennon, Y Li, et al.
Page
of 49