6 Einträge gefunden

1. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

   1. Reuter, Miriam S
   2. Zech, Michael
   3. Hempel, Maja
   4. Altmüller, Janine
   5. Heung, Tracy
   6. Pölsler, Laura
   7. Santer, René

   2022 - Forschungsinformationssystem des UKE
2. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

   1. Marten, Lara M
   2. Brinkert, Florian
   3. Smith, Desirée E C
   4. Prokisch, Holger
   5. Hempel, Maja
   6. Santer, René

   2020 - Forschungsinformationssystem des UKE
3. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

   1. Andersen, Peter M
   2. Nordström, Ulrika
   3. Tsiakas, Konstantinos
   4. Johannsen, Jessika
   5. Volk, Alexander E
   6. Bierhals, Tatjana
   7. Zetterström, Per

   2019 - Forschungsinformationssystem des UKE
4. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

   1. Harms, Frederike L
   2. Kloth, Katja
   3. Bley, Annette
   4. Denecke, Jonas
   5. Santer, René
   6. Lessel, Davor
   7. Hempel, Maja

   2018 - Forschungsinformationssystem des UKE
5. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

   1. Oud, Machteld M
   2. Tuijnenburg, Paul
   3. Hempel, Maja
   4. van Vlies, Naomi
   5. Ren, Zemin
   6. Ferdinandusse, Sacha
   7. Jansen, Machiel H

   2017 - Forschungsinformationssystem des UKE
6. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

   1. Hempel, Maja
   2. Kremer, Laura S
   3. Tsiakas, Konstantinos
   4. Alhaddad, Bader
   5. Haack, Tobias B
   6. Löbel, Ulrike
   7. Feichtinger, René G

   2017 - Forschungsinformationssystem des UKE