6 Einträge gefunden

1. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

   1. Coste de Bagneaux, Pierre
   2. von Elsner, Leonie
   3. Bierhals, Tatjana
   4. Campiglio, Marta
   5. Johannsen, Jessika
   6. Obermair, Gerald J
   7. Hempel, Maja

   2020 - Forschungsinformationssystem des UKE
2. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

   1. Wagner, Matias
   2. Lévy, Jonathan
   3. Jung-Klawitter, Sabine
   4. Bakhtiari, Somayeh
   5. Monteiro, Fabiola
   6. Maroofian, Reza
   7. Bierhals, Tatjana

   2020 - Forschungsinformationssystem des UKE
3. POLR3A variants with striatal involvement and extrapyramidal movement disorder

   1. Harting, Inga
   2. Al-Saady, Murtadha
   3. Krägeloh-Mann, Ingeborg
   4. Bley, Annette
   5. Hempel, Maja
   6. Bierhals, Tatjana
   7. Karch, Stephanie

   2020 - Forschungsinformationssystem des UKE
4. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

   1. Marten, Lara M
   2. Brinkert, Florian
   3. Smith, Desirée E C
   4. Prokisch, Holger
   5. Hempel, Maja
   6. Santer, René

   2020 - Forschungsinformationssystem des UKE
5. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

   1. Eggermann, Thomas
   2. Kraft, Florian
   3. Kloth, Katja
   4. Klopocki, Eva
   5. Hüning, Irina
   6. Hempel, Maja
   7. Kunstmann, Erdmute

   2020 - Forschungsinformationssystem des UKE
6. 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