7 Einträge gefunden

1. 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
2. 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
3. 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
4. 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
5. Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

   1. Johannsen, Jessika
   2. Hempel, Maja
   3. Diehl, Thilo
   4. Haack, Tobias B
   5. Denecke, Jonas

   2017 - Forschungsinformationssystem des UKE - frei zugänglich
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
7. 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