3 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. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

   1. Schneeberger, Pauline Elisabeth
   2. Nampoothiri, Sheela
   3. Holling, Tess
   4. Yesodharan, Dhanya
   5. Alawi, Malik
   6. Knisely, A S
   7. Müller, Thomas

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11

   1. Harms, Frederike L
   2. Nampoothiri, Sheela
   3. Anazi, Shams
   4. Yesodharan, Dhanya
   5. Alawi, Malik
   6. Kutsche, Kerstin
   7. Alkuraya, Fowzan S

   2018 - Forschungsinformationssystem des UKE