6 Einträge gefunden

1. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

   1. Danda, Sumita
   2. van Rahden, Vanessa A
   3. John, Deepa
   4. Paul, Padma
   5. Raju, Renu
   6. Koshy, Santosh
   7. Kutsche, Kerstin

   2014 - Forschungsinformationssystem des UKE
2. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

   1. de Almeida, Hiram Larangeira
   2. Rossi, Gabriela
   3. de Abreu, Luciana Boff
   4. Bergamaschi, Cristina
   5. da Silva, Alessandra Banaszeski
   6. Kutsche, Kerstin

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
3. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

   1. Girisha, Katta M
   2. Abdollahpour, Hengameh
   3. Shah, Hitesh
   4. Bhavani, Gandham Srilakshmi
   5. Graham, John M
   6. Boggula, Vijay Raju
   7. Phadke, Shubha R

   2014 - Forschungsinformationssystem des UKE
4. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

   1. Sheikhzadeh, Sara
   2. Sondermann, Claudia
   3. Rybczynski, Meike
   4. Habermann, Christian R
   5. Brockstädt, Lars
   6. Keyser, Britta
   7. Kaemmerer, Harald

   2014 - Forschungsinformationssystem des UKE
5. Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes

   1. Hillebrand, Mathias
   2. Millot, Nathalie
   3. Sheikhzadeh, Sara
   4. Rybczynski, Meike
   5. Gerth, Sabine
   6. Kölbel, Tilo
   7. Keyser, Britta

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
6. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

   1. Kortüm, Fanny
   2. Abdollahpour, Hengameh
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Seemanova, Eva
   6. Tinschert, Sigrid
   7. Zenker, Martin

   2014 - Forschungsinformationssystem des UKE