4 Einträge gefunden

1. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

   1. Piña-Aguilar, Raul E
   2. Zaragoza-Arévalo, Gerardo R
   3. Rau, Isabella
   4. Gal, Andreas
   5. Alcántara-Ortigoza, Miguel A
   6. López-Martínez, Mónica S
   7. Santillán-Hernández, Yuritzi

   2013 - Forschungsinformationssystem des UKE
2. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

   1. Gal, Andreas
   2. Rau, Isabella
   3. Leila, El Matri
   4. Kreienkamp, Hans-Jürgen
   5. Fehr, Susanne
   6. Baklouti, Karim
   7. Chouchane, Ibtissem

   2011 - Forschungsinformationssystem des UKE
3. 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
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