Elisa Rahikkala

16PUBLICATIONS
53CO-AUTHORS
Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Cell and nuclear divisionInfant and child healthVision science
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Publications (16)

|Mar 18, 2026
Clinical and genetic characterization of intellectual disability.

Aarni Venetvaara, Minna Kraatari-Tiri, Jussi-Pekka Tolonen

|Oct 23, 2025
A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.

Katariina Granath, Salla M Kangas, Sanna Huhtaniska

|Jun 26, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.

Laura Lähteenoja, Pasi Ohtonen, Aura Falck

|May 06, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Katariina Granath, Sanna Huhtaniska, Juulia Ellonen

|Mar 05, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Sophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi

|Oct 18, 2024
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Minna Kraatari-Tiri, Tyrni Pykälainen, Pia Pohjola

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Frequent Collaborators

5 joint publications

Jukka S Moilanen

4 joint publications

Minna Kraatari-Tiri

4 joint publications

Aida M Bertoli-Avella

3 joint publications

Salla M Kangas