OpenURL Connection Search - EBSCO

Connecting you to content on EBSCOhostUNIVERSITÄT DORTMUND

Select item for more details and to access through your institution.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Published in:
2022
By:
- Sumathipala, Dulika;
- Strømme, Petter;
- Fattahi, Zohreh;
- Lüders, Torben;
- Sheng, Ying;
- Kahrizi, Kimia;
- Einarsen, Ingunn Holm;
- Sloan, Jennifer L;
- Najmabadi, Hossein;
- van den Heuvel, Lambert;
- Wevers, Ron A;
- Guerrero-Castillo, Sergio;
- Mørkrid, Lars;
- Valayannopoulos, Vassili;
- Backe, Paul Hoff;
- Venditti, Charles P;
- Karnebeek, Clara D van;
- Nilsen, Hilde;
- Frengen, Eirik;
- Misceo, Doriana
Publication type:
journal article
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01024-y
By:
- Sumathipala, Dulika;
- Strømme, Petter;
- Gilissen, Christian;
- Einarsen, Ingunn Holm;
- Bjørndalen, Hilde J.;
- Server, Andrés;
- Corominas, Jordi;
- Hassel, Bjørnar;
- Fannemel, Madeleine;
- Misceo, Doriana;
- Frengen, Eirik
Publication type:
Article