4 Einträge gefunden

1. TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype

   1. Cenni, Camille
   2. Andres, Stephanie
   3. Hempel, Maja
   4. Strom, Tim M
   5. Thomas, Ellen
   6. Davies, Angela
   7. Timoney, Norma

   2021 - Forschungsinformationssystem des UKE
2. 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
3. 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
4. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

   1. Martin, Sonja
   2. Chamberlin, Adam
   3. Shinde, Deepali N
   4. Hempel, Maja
   5. Strom, Tim M
   6. Schreiber, Allison
   7. Johannsen, Jessika

   2017 - Forschungsinformationssystem des UKE