4 Einträge gefunden

1. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

   1. Kloth, Katja
   2. Neu, Axel
   3. Rau, Isabella
   4. Hülsemann, Wiebke
   5. Kutsche, Kerstin
   6. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE
2. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

   1. Rau, Isabella
   2. Rauch, Anita
   3. Orth, Ulrike
   4. Schwarzer, Ulrich
   5. Trautmann, Udo
   6. Kutsche, Kerstin

   2007 - Forschungsinformationssystem des UKE
3. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

   1. Rau, Isabella
   2. Shaw, Gary M
   3. Kutsche, Kerstin

   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