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. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

   1. Shukla, Anju
   2. Hebbar, Malavika
   3. Harms, Frederike L
   4. Kadavigere, Rajagopal
   5. Girisha, Katta M
   6. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE