3 Einträge gefunden

1. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

   1. Holling, Tess
   2. Lisfeld, Jasmin
   3. Johannsen, Jessika
   4. Matschke, Jakob
   5. Song, Feizhi
   6. Altmeppen, Hermann Clemens
   7. Kutsche, Kerstin

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. 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
3. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

   1. Kloth, Katja
   2. Bierhals, Tatjana
   3. Johannsen, Jessika
   4. Harms, Frederike L
   5. Juusola, Jane
   6. Johnson, Mark C
   7. Grange, Dorothy K

   2019 - Forschungsinformationssystem des UKE