5 Einträge gefunden

1. Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

   1. Chateau, Antoinette
   2. Kutsche, Kerstin
   3. Fuchs, Sigrid
   4. Harms, Frederike
   5. Kruse, Carl-Heinz
   6. Mosam, Anisa

   2020 - Forschungsinformationssystem des UKE
2. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

   1. Schneeberger, Pauline E
   2. Nayak, Shalini S
   3. Fuchs, Sigrid
   4. Kutsche, Kerstin
   5. Girisha, Katta M

   2020 - Forschungsinformationssystem des UKE
3. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

   1. Podolska, Anna
   2. Kobelt, Albrecht
   3. Fuchs, Sigrid
   4. Hackmann, Karl
   5. Rump, Andreas
   6. Schröck, Evelin
   7. Kutsche, Kerstin

   2017 - Forschungsinformationssystem des UKE
4. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

   1. Kortüm, Fanny
   2. Chyrek, Magdalena
   3. Fuchs, Sigrid
   4. Albrecht, B
   5. Gillessen-Kaesbach, G
   6. Mütze, U
   7. Seemanova, E

   2011 - Forschungsinformationssystem des UKE
5. 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