7 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. 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
3. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
4. Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

   1. Bierhals, Tatjana
   2. Korenke, Georg Christoph
   3. Baethmann, Martina
   4. Marín, Laura López
   5. Staudt, Martin
   6. Kutsche, Kerstin

   2018 - Forschungsinformationssystem des UKE
5. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

   1. Bierhals, Tatjana
   2. Maddukuri, Satish Babu
   3. Kutsche, Kerstin
   4. Girisha, Katta Mohan

   2013 - Forschungsinformationssystem des UKE
6. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations

   1. Bierhals, Tatjana
   2. Korenke, Georg Christoph
   3. Uyanik, Gökhan
   4. Kutsche, Kerstin

   2013 - Forschungsinformationssystem des UKE
7. Phenotypic spectrum associated with CASK loss-of-function mutations.

   1. Moog, Ute
   2. Kutsche, Kerstin
   3. Kortüm, Fanny
   4. Chilian, Bettina
   5. Bierhals, Tatjana
   6. Apeshiotis, Neophytos
   7. Balg, Stefanie

   2011 - Forschungsinformationssystem des UKE