Author: "Koziell, Ania" / Journal: human molecular genetics - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Koziell, Ania"' showing total 3 results

Start Over Author "Koziell, Ania" Journal human molecular genetics

3 results on '"Koziell, Ania"'

1. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

Author: Koziell, Ania, Grech, Victor, Hussain, Sagair, Lee, Gary, Lenkkeri, Ulla, Tryggvason, Karl, and Scambler, Peter
Published: 2002

2. Genotype/phenotype correlationsof NPHS1 and NPHS2 mutations innephrotic syndrome advocate a functional inter-relationship in glomerularfiltration.

Author: Koziell, Ania, Grech, Victor, Hussain, Sagair, Lee, Gary, Lenkkeri, Ulla, Tryggvason, Karl, and Scambler, Peter
Published: 2002
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3. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

Author: Klamt, Barbara, Koziell, Ania, Poulat, Francis, Wieacker, Peter, Scambler, Peter, Berta, Philippe, and Gessler, Manfred
Abstract: Studies the cause of Frasier syndrome. Defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms; Phenotype in patients with Denys-Drash syndrome; Characteristic features of Frasier syndrome.
Published: 1998
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