Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
Loid, P., Lipsanen-Nyman, M., Ala-Mello, S., Hannula-Jouppi, K., Kere, J., Mäkitie, O. & Muurinen, M., 4 Oct 2022, In: Frontiers in pediatrics. 10, 6 p., 969881.Research output: Contribution to journal › Article › Scientific › peer-review
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Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Muurinen, M., Taylan, F., Tournis, S., Eisfeldt, J., Balanika, A., Vastardis, H., Ala-Mello, S., Mäkitie, O. & Costantini, A., Aug 2022, In: JBMR plus. 6, 8, 9 p., 10660.Research output: Contribution to journal › Article › Scientific › peer-review
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Perinnöllisten oireyhtymien diagnostiikan periaatteet
Anttonen, A.-K. & Ala-Mello, S., 2019, Vastasyntyneiden akuuttihoito. Luukkainen, P., Metsäranta, M. & Sankilampi, U. (eds.). 1. p. ed. Helsinki: Duodecim, p. 310-311 2 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
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Perinnöllisten oireyhtymien löydökset
Ala-Mello, S., 2019, Vastasyntyneiden akuuttihoito. Luukkainen, P., Metsäranta, M. & Sankilampi, U. (eds.). 1. p. ed. Helsinki: Duodecim, p. 311-317 7 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Labrijn-Marks, I., Somers-Bolman, G. M., Groen, S. L. M. I., Hoogeveen-Westerveld, M., Kroos, M. A., Ala-Mello, S., Amaral, O., Miranda, C. S., Mavridou, I., Michelakakis, H., Naess, K., Verheijen, F. W., Hoefsloot, L. H., Dijkhuizen, T., Benjamins, M., van den Hout, H. J. M., van der Ploeg, A. T., Pijnappel, W. W. M. P., Saris, J. J. & Halley, D. J., Jun 2019, In: European Journal of Human Genetics. 27, 6, p. 919-927 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile