3 Einträge gefunden

1. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

   1. Meyer, Ann
   2. Kossow, Kai
   3. Gal, Andreas
   4. Steglich, Cordula
   5. Mühlhausen, Chris
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2008 - Forschungsinformationssystem des UKE
2. First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

   1. Tomi, Diana
   2. Schultze-Mosgau, Askan
   3. Eckhold, Juliane
   4. Schopper, Beate
   5. Al-Hasani, Safaa
   6. Steglich, Cordula
   7. Gal, Andreas

   2006 - Forschungsinformationssystem des UKE
3. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

   1. Hübner, Christian A
   2. Orth, Ulrike
   3. Senning, Arne
   4. Steglich, Cordula
   5. Kohlschütter, Alfried
   6. Korinthenberg, Rudolf
   7. Gal, Andreas

   2005 - Forschungsinformationssystem des UKE