6 Einträge gefunden

1. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

   1. Volk, Alexander E
   2. Kubisch, Christian

   2017 - Forschungsinformationssystem des UKE
2. 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
3. AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

   1. Lang-Roth, Ruth
   2. Fischer-Krall, Eva
   3. Kornblum, Cornelia
   4. Nürnberg, Gudrun
   5. Meschede, Dieter
   6. Goebel, Ingrid
   7. Nürnberg, Peter

   2017 - Forschungsinformationssystem des UKE
4. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

   1. Rolvien, Tim
   2. Butscheidt, Sebastian
   3. Jeschke, Anke
   4. Neu, Axel
   5. Denecke, Jonas
   6. Kubisch, Christian
   7. Meisler, Miriam H

   2017 - Forschungsinformationssystem des UKE
5. 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
6. 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