8 Einträge gefunden

1. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

   1. Schuster, Andreas
   2. Janecke, Andreas R
   3. Wilke, Robert
   4. Schmid, Eduard
   5. Thompson, Debra A
   6. Utermann, Gerd
   7. Wissinger, Bernd

   2007 - Forschungsinformationssystem des UKE - frei zugänglich
2. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

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

   2007 - Forschungsinformationssystem des UKE
3. Plexin B3 is genetically associated with verbal performance and white matter volume in human brain.

   1. Rujescu, D
   2. Meisenzahl, E M
   3. Krejcova, S
   4. Giegling, I
   5. Zetzsche, T
   6. Reiser, M
   7. Born, C M

   2007 - Forschungsinformationssystem des UKE
4. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

   1. Szabo, Viktoria
   2. Kreienkamp, Hans-Jürgen
   3. Rosenberg, Thomas
   4. Gal, Andreas

   2007 - Forschungsinformationssystem des UKE
5. L1CAM mutation in a boy with hydrocephalus and duplex kidneys.

   1. Liebau, Max Christoph
   2. Gal, Andreas
   3. Superti-Furga, Andrea
   4. Omran, Heymut
   5. Pohl, Martin

   2007 - Forschungsinformationssystem des UKE
6. Phenotypes of female adrenoleukodystrophy.

   1. Jung, H H
   2. Rau, Isabella
   3. Jung, S
   4. Landau, K
   5. Gal, Andreas
   6. Heppner, F L

   2007 - Forschungsinformationssystem des UKE
7. Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

   1. Kurth, Ingo
   2. Thompson, Debra A
   3. Rüther, Klaus
   4. Feathers, Kecia L
   5. Chrispell, Jared D
   6. Schroth, Jana
   7. McHenry, Christina L

   2007 - Forschungsinformationssystem des UKE
8. [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]

   1. Keilhauer, C N
   2. Gal, Andreas
   3. Sold, J E
   4. Zimmermann, J
   5. Netzer, K-O
   6. Schramm, L

   2007 - Forschungsinformationssystem des UKE