Joakim Klar

11PUBLICATIONS
27CO-AUTHORS
GenomicsDevelopmental genetics (incl. sex determination)Genetic immunologyEvolution of developmental systemsMicroelectromechanical systems (MEMS)
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Publications (11)

|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

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