9 Einträge gefunden

1. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

   1. Bley, Annette
   2. Denecke, Jonas
   3. Kohlschütter, Alfried
   4. Schön, Gerhard
   5. Hischke, Sandra
   6. Guder, Philipp
   7. Bierhals, Tatjana

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

   1. Hecher, Laura
   2. Johannsen, Jessika
   3. Bierhals, Tatjana
   4. Buhk, Jan-Hendrik
   5. Hempel, Maja
   6. Denecke, Jonas

   2020 - Forschungsinformationssystem des UKE
3. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

   1. Johannsen, Jessika
   2. Bierhals, Tatjana
   3. Deindl, Philipp
   4. Hecher, Laura
   5. Hermann, Katharina
   6. Hempel, Maja
   7. Kloth, Katja

   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. 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. 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
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
8. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

   1. Hempel, Maja
   2. Cremer, Kirsten
   3. Ockeloen, Charlotte W
   4. Lichtenbelt, Klaske D
   5. Herkert, Johanna C
   6. Denecke, Jonas
   7. Haack, Tobias B

   2015 - Forschungsinformationssystem des UKE
9. Phenotypic and molecular insights into CASK-related disorders in males

   1. Moog, Ute
   2. Bierhals, Tatjana
   3. Brand, Kristina
   4. Bautsch, Jan
   5. Biskup, Saskia
   6. Brune, Thomas
   7. Denecke, Jonas

   2015 - Forschungsinformationssystem des UKE - frei zugänglich