3 Einträge gefunden

1. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

   1. Manivannan, Sathiya N
   2. Roovers, Jolien
   3. Smal, Noor
   4. Myers, Candace T
   5. Turkdogan, Dilsad
   6. Roelens, Filip
   7. Kanca, Oguz

   2022 - 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. 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