Research Output per year
International and National Collaboration
Publications and projects within past five years.
Publications
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
Harjama, L., Kettunen, K., Elomaa, O., Einarsdottir, E., Heikkilä, H., Kivirikko, S., Lappalainen, K., Saarela, J., Alby, C., Ranki, A., Kere, J., Hadj-Rabia, S. & Hannula-Jouppi, K., Feb 2020, In : Acta Dermato-Venereologica. 100, 2, 2 p., 00060.Research output: Contribution to journal › Editorial › Scientific › peer-review
Open Access
File
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
Open Access
File
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
FinnGen Project, Tabassum, R., Rämö, J. T., Ripatti, P., Koskela, J. T., Kurki, M., Karjalainen, J., Palta, P., Hassan, S., Nunez-Fontarnau, J., Kiiskinen, T. T. J., Söderlund, S., Matikainen, N., Laivuori, H., Havulinna, A. S., Pirinen, M., Jalanko, A., Kaprio, J., Donner, K., Kaunisto, M. & 70 others, , 24 Sep 2019, In : Nature Communications. 10, 1, 14 p., 4329.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access
File
Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation
Hannula-Jouppi, K., Harjama, L., Einarsdottir, E., Elomaa, O., Kettunen, K., Saarela, J., Soronen, M., Bouchard, L., Lappalainen, K., Heikkilä, H., Kivirikko, S., Seppänen, M. RJ., Kere, J. & Ranki, A., 7 Nov 2019, In : Journal of the American Academy of Dermatology.Research output: Contribution to journal › Article › Scientific › peer-review
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions
Vakkilainen, S., Puhakka, L., Klemetti, P., Heiskanen, K., Seppänen, M., Muona, M., POSSEMEs, C., Duffy, D., Väisänen, T., Elomaa, O., Palomäki, M., Saxen, H., Ranki, A. & Hannula-Jouppi, K., Jul 2019, In : Acta Dermato-Venereologica. 99, 9, p. 789-796 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access
File
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
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
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
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
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 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
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