3 Einträge gefunden

1. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

   1. Holling, Tess
   2. Bhavani, Gandham S
   3. von Elsner, Leonie
   4. Shah, Hitesh
   5. Kausthubham, Neethukrishna
   6. Bhattacharyya, Shaila S
   7. Shukla, Anju

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

   1. Dahimene, Shehrazade
   2. von Elsner, Leonie
   3. Holling, Tess
   4. Mattas, Lauren S
   5. Pickard, Jess
   6. Lessel, Davor
   7. Pilch, Kjara S

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

   1. Meyer Zum Büschenfelde, Uta
   2. Brandenstein, Laura Isabel
   3. von Elsner, Leonie
   4. Flato, Kristina
   5. Holling, Tess
   6. Zenker, Martin
   7. Rosenberger, Georg

   2018 - Forschungsinformationssystem des UKE - frei zugänglich