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International and National Collaboration Publications and projects within past five years.

Publications 1998 2019

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation

Hirvonen, E. A. M., Peuhkuri, S., Norberg, A., Degerman, S., Hannula-Jouppi, K., Välimaa, H., Kilpivaara, O. & Wartiovaara-Kautto, U., Jan 2019, In : Leukemia. 33, 1, p. 275-278 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Immune cell phenotype and functional defects in Netherton syndrome

Eränkö, E., Ilander, M., Tuomiranta, M., Mäkitie, A., Lassila, T., Kreutzman, A., Klemetti, P., Mustjoki, S., Hannula-Jouppi, K. & Ranki, A., 26 Nov 2018, In : Orphanet journal of rare diseases. 13, 10 p., 213.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Silver-Russell syndrome and human growth: genetic and epigenetic studies

Muurinen, M., 2018, Helsinki : Helsingin yliopisto. 84 p.

Research output: ThesisDoctoral ThesisCollection of Articles

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

Muurinen, M., Hannula-Jouppi, K., Reinius, L. E., Soderhall, C., Merid, K., Bergstrom, A., Melen, E., Pershagen, G., Lipsanen-Nyman, M., Greco, D. & Kere, J., 16 Nov 2017, In : Scientific Reports. 7, 11 p., 15693.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation

Hannula-Jouppi, K., Laasanen, S-L., Ilander, M., Furio, L., Tuomiranta, M., Marttila, R., Jeskanen, L., Häyry, V., Kanerva, M., Kivirikko, S., Tuomi, M-L., Heikkila, H., Mustjoki, S., Hovnanian, A. & Ranki, A., Apr 2016, In : Jama dermatology. 152, 4, p. 435-442 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Activities 2001 2007

  • 6 Peer review of manuscripts
  • 1 Supervisor or co-supervisor of doctoral thesis

Medical Science Monitor (Journal)

Katariina Sara Eriikka Hannula-Jouppi (Reviewer)
2007 → …

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

Pediatric Research (Journal)

Katariina Sara Eriikka Hannula-Jouppi (Reviewer)
2007 → …

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

Orphanet journal of rare diseases (Journal)

Katariina Sara Eriikka Hannula-Jouppi (Reviewer)
2006 → …

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

American journal of medical genetics (Journal)

Katariina Sara Eriikka Hannula-Jouppi (Reviewer)
2006 → …

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

Väitöskirja

Katariina Sara Eriikka Hannula-Jouppi (Co-supervisor)
Jan 2005Feb 2009

Activity: Examination typesSupervisor or co-supervisor of doctoral thesis