Minna Kraatari-Tiri

8PUBLICATIONS
45CO-AUTHORS
Early English languagesForensic epidemiologyMolecular evolutionNutritional epidemiologyNeurogenetics
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Publications (8)

|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

|Apr 02, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges

|Mar 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Josephina A N Meester, Anne Hebert, Maaike Bastiaansen

|Feb 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges

|Dec 12, 2022
Pathogenic REST variant causing Jones syndrome and a review of the literature.

Elisa Rahikkala, Johanna Julku, Sari Koskinen

|Jul 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.

Minna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski

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Frequent Collaborators

4 joint publications

Elisa Rahikkala

2 joint publications

Rosalyn Jewell

2 joint publications

Mélanie Fradin

2 joint publications

Wayne Lam