8 Einträge gefunden

1. Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

   1. Rippe, Moritz
   2. De Backer, Julie
   3. Kutsche, Kerstin
   4. Mosquera, Laura Muiño
   5. Schüler, Helke
   6. Rybczynski, Meike
   7. Bernhardt, Alexander M

   2016 - Forschungsinformationssystem des UKE
2. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

   1. Girisha, Katta Mohan
   2. Kortüm, Fanny
   3. Shah, Hitesh
   4. Alawi, Malik
   5. Dalal, Ashwin
   6. Bhavani, Gandham SriLakshmi
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
3. Response to Calgani et al

   1. Zenker, Martin
   2. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
4. Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome

   1. Stark, Veronika
   2. Arndt, Florian
   3. Harring, Gesa
   4. Keyser, Britta
   5. von Kodolitsch, Yskert
   6. Kozlik-Feldmann, Rainer
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
5. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

   1. Girisha, Katta Mohan
   2. Bidchol, Abdul Mueed
   3. Graul-Neumann, Luitgard
   4. Gupta, Ashish
   5. Hehr, Ute
   6. Lessel, Davor
   7. Nader, Sean

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
6. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

   1. Vogel, Markus
   2. Velleuer, Eunike
   3. Schmidt-Jiménez, Leon F
   4. Mayatepek, Ertan
   5. Borkhardt, Arndt
   6. Alawi, Malik
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
7. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

   1. von Kodolitsch, Yskert
   2. Rybczynski, Meike
   3. Vogler, Marina
   4. Mir, Thomas S
   5. Schüler, Helke
   6. Kutsche, Kerstin
   7. Rosenberger, Georg

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
8. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

   1. Shukla, Anju
   2. Hebbar, Malavika
   3. Harms, Frederike L
   4. Kadavigere, Rajagopal
   5. Girisha, Katta M
   6. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE