Joakim Klar
10PUBLICATIONS
11CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (10)
Sort by Publication Date:
|Aug 27, 2024
Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications.Jens Schuster, Xi Lu, Yonglong Dang
|Nov 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.Clarisse Delvallée, Samuel Nicaise, Manuela Antin
|Jun 27, 2020
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool
|May 18, 2019
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.Pantelis Clewemar, Nils P Hailer, Yasmin Hailer
|Sep 26, 2018
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.Carina Frykholm, Joakim Klar, Tatjana Tomanovic
|Jul 08, 2017
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.Joakim Klar, Jörg Piontek, Susanne Milatz
Pageof 2
Frequent Collaborators
2 joint publications
Jens Schuster
1 joint publications
Doroteya Raykova
1 joint publications
Muhammad Tariq
1 joint publications
Tilman Breiderhoff
1 joint publications
Dorothee Günzel
1 joint publications
Pantelis Clewemar
1 joint publications
Eva-Lena Stattin
1 joint publications
Jean Muller
1 joint publications
Yonglong Dang
1 joint publications
Niklas Dahl
