5 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. Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype

   1. Demal, Till Joscha
   2. Scholz, Tasja
   3. Schüler, Helke
   4. Olfe, Jakob
   5. Fröhlich, Anja
   6. Speth, Fabian
   7. von Kodolitsch, Yskert

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

   1. Kloth, Katja
   2. Denecke, Jonas
   3. Hempel, Maja
   4. Johannsen, Jessika
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Lessel, Davor

   2017 - Forschungsinformationssystem des UKE
4. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

   1. Said, Edith
   2. Chong, Jessica X
   3. Hempel, Maja
   4. Denecke, Jonas
   5. Soler, Paul
   6. Strom, Tim
   7. Nickerson, Deborah A

   2017 - Forschungsinformationssystem des UKE
5. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

   1. Hempel, Maja
   2. Casar Tena, Teresa
   3. Diehl, Thilo
   4. Burczyk, Martina S
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Philipp, Melanie

   2017 - Forschungsinformationssystem des UKE