Veske A - Search Results

1

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Gu SM, Orth U, Veske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E, Gal A. Gu SM, et al. Among authors: veske a. J Med Genet. 1996 Feb;33(2):103-6. doi: 10.1136/jmg.33.2.103. J Med Genet. 1996. PMID: 8929944 Free PMC article.

2

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

Finckh U, Schröder J, Ressler B, Veske A, Gal A. Finckh U, et al. Among authors: veske a. Am J Med Genet. 2000 May 1;92(1):40-6. doi: 10.1002/(sici)1096-8628(20000501)92:1<40::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 2000. PMID: 10797421

3

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

Gal A, Veske A, Jojart G, Grammatico B, Huber B, Gu S, del Porto G, Senyi K. Gal A, et al. Among authors: veske a. Acta Ophthalmol Scand Suppl. 1996;(219):13-6. doi: 10.1111/j.1600-0420.1996.tb00374.x. Acta Ophthalmol Scand Suppl. 1996. PMID: 8741107

4

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.

Caballero M, Veske A, Rodriguez JJ, Lugo N, Schroeder B, Hesse L, Gal A. Caballero M, et al. Among authors: veske a. Ophthalmic Genet. 1996 Dec;17(4):187-91. doi: 10.3109/13816819609057892. Ophthalmic Genet. 1996. PMID: 9010869

5

Microsatellite (TTCC)n polymorphism in intron 6 of the canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene.

Veske A, Nilsson SE, Gal A. Veske A, et al. Anim Genet. 1997 Oct;28(5):374-5. Anim Genet. 1997. PMID: 9363608 No abstract available.

6

Microsatellite (CA)n polymorphism in intron 2 of the canine rod photoreceptor cGMP-phosphodiesterase alpha-subunit gene.

Veske A, Nilsson SE, Gal A. Veske A, et al. Anim Genet. 1997 Oct;28(5):380. doi: 10.1111/j.1365-2052.1997.tb03284.x. Anim Genet. 1997. PMID: 9363616 No abstract available.

7

Characterization of canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards.

Veske A, Nilsson SE, Gal A. Veske A, et al. Gene. 1997 Nov 20;202(1-2):115-9. doi: 10.1016/s0378-1119(97)00461-7. Gene. 1997. PMID: 9427553

8

Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (cGC-E) and exclusion of its involvement in the inherited retinal dystrophy of the Swedish Briard and Briard-beagle dogs.

Veske A, Nilsson SE, Gal A. Veske A, et al. Biochim Biophys Acta. 1998 Jun 24;1372(1):69-77. doi: 10.1016/s0005-2736(98)00047-9. Biochim Biophys Acta. 1998. PMID: 9651484 Free article.

9

Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

Veske A, Nilsson SE, Narfström K, Gal A. Veske A, et al. Genomics. 1999 Apr 1;57(1):57-61. doi: 10.1006/geno.1999.5754. Genomics. 1999. PMID: 10191083

10

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myhsok B, Mehdi SQ, Gal A. Veske A, et al. Hum Mol Genet. 1996 Jan;5(1):165-8. doi: 10.1093/hmg/5.1.165. Hum Mol Genet. 1996. PMID: 8789456

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