5 Einträge gefunden

1. Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

   1. Schob, Claudia
   2. Orth, Ulrike
   3. Gal, Andreas
   4. Kindler, Stefan
   5. Chakarova, Christina F
   6. Bhattacharya, Shomi S
   7. Rüther, Klaus

   2009 - Forschungsinformationssystem des UKE
2. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

   1. Azam, Maleeha
   2. Khan, Muhammad Imran
   3. Gal, Andreas
   4. Hussain, Alamdar
   5. Shah, Syed Tahir Abbas
   6. Khan, Muhammad Shakil
   7. Sadeque, Ahmed

   2009 - Forschungsinformationssystem des UKE - frei zugänglich
3. [Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]

   1. Müller, M
   2. Kusserow, C
   3. Orth, Ulrike
   4. Klär-Dissars, U
   5. Laqua, H
   6. Gal, Andreas

   2008 - Forschungsinformationssystem des UKE
4. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

   1. Rau, Isabella
   2. Morleo, Manuela
   3. Rosenberger, Georg
   4. Iaconis, Daniela
   5. Orth, Ulrike
   6. Meinecke, Peter
   7. Lerer, Israela

   2006 - Forschungsinformationssystem des UKE
5. 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