2 Einträge gefunden

1. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

   1. Lessel, Davor
   2. Rading, Katrin
   3. Campbell, Susan E
   4. Thiele, Holger
   5. Altmüller, Janine
   6. Gordon, Leslie B
   7. Kubisch, Christian

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

   1. Lessel, Davor
   2. Ozel, Ayse Bilge
   3. Campbell, Susan E
   4. Saadi, Abdelkrim
   5. Arlt, Martin F
   6. McSweeney, Keisha Melodi
   7. Plaiasu, Vasilica

   2018 - Forschungsinformationssystem des UKE