3 Einträge gefunden

1. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

   1. Abdollahpour, Hengameh
   2. Alawi, Malik
   3. Kortüm, Fanny
   4. Beckstette, Michael
   5. Seemanova, Eva
   6. Komárek, Vladimír
   7. Rosenberger, Georg

   2015 - Forschungsinformationssystem des UKE
2. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

   1. van Rahden, Vanessa A
   2. Fernandez-Vizarra, Erika
   3. Alawi, Malik
   4. Brand, Kristina
   5. Fellmann, Florence
   6. Horn, Denise
   7. Zeviani, Massimo

   2015 - Forschungsinformationssystem des UKE
3. Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

   1. von Kodolitsch, Yskert
   2. Kutsche, Kerstin

   2015 - Forschungsinformationssystem des UKE