2 Einträge gefunden

1. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

   1. Holling, Tess
   2. Nampoothiri, Sheela
   3. Tarhan, Bedirhan
   4. Schneeberger, Pauline E
   5. Vinayan, Kollencheri Puthenveettil
   6. Yesodharan, Dhanya
   7. Roy, Arun Grace

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

   1. Girisha, Katta Mohan
   2. Kortüm, Fanny
   3. Shah, Hitesh
   4. Alawi, Malik
   5. Dalal, Ashwin
   6. Bhavani, Gandham SriLakshmi
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE