3 Einträge gefunden

1. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

   1. Scholz, Tasja
   2. Blohm, Martin Ernst
   3. Kortüm, Fanny
   4. Bierhals, Tatjana
   5. Lessel, Davor
   6. van der Ven, Amelie T
   7. Lisfeld, Jasmin

   2021 - Forschungsinformationssystem des UKE
2. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

   1. van der Ven, Amelie T
   2. Johannsen, Jessika
   3. Kortüm, Fanny
   4. Wagner, Matias
   5. Tsiakas, Konstantinos
   6. Bierhals, Tatjana
   7. Lessel, Davor

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Phenotypic spectrum associated with CASK loss-of-function mutations.

   1. Moog, Ute
   2. Kutsche, Kerstin
   3. Kortüm, Fanny
   4. Chilian, Bettina
   5. Bierhals, Tatjana
   6. Apeshiotis, Neophytos
   7. Balg, Stefanie

   2011 - Forschungsinformationssystem des UKE