Research output per year
Research output per year
International and National Collaboration
Publications and projects within past five years.
Publications
- 23 Article
-
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
Jacquemin, V., Versbraegen, N., Duerinckx, S., Massart, A., Soblet, J., Perazzolo, C., Deconinck, N., Brischoux-Boucher, E., De Leener, A., Revencu, N., Janssens, S., Moorgat, S., Blaumeiser, B., Avela, K., Touraine, R., Abou Jaoude, I., Keymolen, K., Saugier-Veber, P., Lenaerts, T., Abramowicz, M., & 1 others, 2 Mar 2023, In: Human Genomics. 17, 1, 14 p., 16.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG
Majander, A., Sankila, E-M., Falck, A., Vasara, L. K., Seitsonen, S., Kulmala, M., Haavisto, A-K., Avela, K. & Turunen, J. A., Mar 2023, In: Acta Ophthalmologica. 101, 2, p. 215-221 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype
Ignatius, E., Puosi, R., Palomäki, M., Forsbom, N., Pohjanpelto, M., Alitalo, T., Anttonen, A-K., Avela, K., Haataja, L., Carroll, C. J., Lönnqvist, T. & Isohanni, P., Mar 2022, In: European Journal of Paediatric Neurology. 37, p. 1-7 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case
Narhi, A., Fernandes, A., Toiviainen-Salo, S., Harris, J., McInerney-Leo, A., Lazarus, S., Avela, K. & Duncan, EL., Aug 2021, In: American Journal of Medical Genetics. Part A. 185, 8, p. 2477-2481 5 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4
Strang-Karlsson, S., von Willebrand, M., Avela, K. & Wallgren-Pettersson, C., Jun 2021, In: American journal of medical genetics. Part A. 185, 6, p. 1875-1882 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile