4 Einträge gefunden

1. Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

   1. Hüning, Irina
   2. Kutsche, Kerstin
   3. Rajaei, Saideh
   4. Erlandsson, Anna
   5. Lovmar, Lovisa
   6. Rundberg, Julia
   7. Stefanova, Margarita

   2013 - Forschungsinformationssystem des UKE
2. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

   1. Abo-Dalo, Benjamin
   2. Kim, Hyung-Goo
   3. Roes, Melanie
   4. Stefanova, Margarita
   5. Higgins, Anne
   6. Shen, Yiping
   7. Mundlos, Stefan

   2007 - Forschungsinformationssystem des UKE
3. A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

   1. Stefanova, Margarita
   2. Meinecke, Peter
   3. Gal, Andreas
   4. Bolz, Hanno

   2005 - Forschungsinformationssystem des UKE
4. Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions

   1. Stefanova, Margarita
   2. Atanassov, Dimitar
   3. Krastev, Tzaniu
   4. Fuchs, Sigrid
   5. Kutsche, Kerstin

   2003 - Forschungsinformationssystem des UKE