Research Output per year
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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
Open Access
File
Silver-Russell syndrome and human growth: genetic and epigenetic studies
Muurinen, M., 2018, Helsinki : Helsingin yliopisto. 84 p.Research output: Thesis › Doctoral Thesis › Collection 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
Open Access
Prizes
The Endocrine Society and Pfizer, Inc. International Award for Excellence in Published Clinical Research in the Journal of Clinical Endocrinology and Metabolism 2009: Clinically Distinct Epigenetic Subgoups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies
Katariina Sara Eriikka Hannula-Jouppi (Recipient), 2009
Prize: Prizes and awards
Activities 2001 2007
Medical Science Monitor (Journal)
Katariina Sara Eriikka Hannula-Jouppi (Reviewer)2007 → …
Activity: Publication peer-review and editorial work types › Peer review of manuscripts
Pediatric Research (Journal)
Katariina Sara Eriikka Hannula-Jouppi (Reviewer)2007 → …
Activity: Publication peer-review and editorial work types › Peer review of manuscripts
Orphanet journal of rare diseases (Journal)
Katariina Sara Eriikka Hannula-Jouppi (Reviewer)2006 → …
Activity: Publication peer-review and editorial work types › Peer review of manuscripts
American journal of medical genetics (Journal)
Katariina Sara Eriikka Hannula-Jouppi (Reviewer)2006 → …
Activity: Publication peer-review and editorial work types › Peer review of manuscripts
Väitöskirja
Katariina Sara Eriikka Hannula-Jouppi (Co-supervisor)Jan 2005 → Feb 2009
Activity: Examination types › Supervisor or co-supervisor of doctoral thesis
Press / Media
The axon guidance receptor geme ROBO1 is a candidate gene fir developmental dyslexia. PLOS Genetics 2005
Katariina Sara Eriikka Hannula-Jouppi
01/01/2005
1 media contribution
Press/Media: Press / Media
The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLOS Genetics 2005
Katariina Sara Eriikka Hannula-Jouppi
01/01/2005
1 media contribution
Press/Media: Press / Media