4 Einträge gefunden

1. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

   1. Kakar, Naseebullah
   2. Horn, Denise
   3. Decker, Eva
   4. Sowada, Nadine
   5. Kubisch, Christian
   6. Ahmad, Jamil
   7. Borck, Guntram

   2018 - Forschungsinformationssystem des UKE
2. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

   1. Spielmann, Malte
   2. Kakar, Naseebullah
   3. Tayebi, Naeimeh
   4. Leettola, Catherine
   5. Nürnberg, Gudrun
   6. Sowada, Nadine
   7. Lupiáñez, Darío G

   2016 - Forschungsinformationssystem des UKE
3. Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans

   1. Sowada, Nadine
   2. Stiller, Barbara
   3. Kubisch, Christian

   2016 - Forschungsinformationssystem des UKE
4. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

   1. Borck, Guntram
   2. Hög, Friederike
   3. Dentici, Maria Lisa
   4. Tan, Perciliz L
   5. Sowada, Nadine
   6. Medeira, Ana
   7. Gueneau, Lucie

   2015 - Forschungsinformationssystem des UKE