2 Einträge gefunden

1. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

   1. Girisha, Katta M
   2. von Elsner, Leonie
   3. Neethukrishna, Kausthubham
   4. Muranjan, Mamta
   5. Shukla, Anju
   6. Bhavani, Gandham SriLakshmi
   7. Nishimura, Gen

   2019 - Forschungsinformationssystem des UKE
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