19982020

Research output per year

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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 journalEditorialScientificpeer-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 journalArticleScientificpeer-review

Open Access
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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, Mars, N., Dada, A., Shcherban, A., Ganna, A., Lehisto, A., Kilpeläinen, E., Brein, G., Awaisa, G., Harju, J., Pärn, K., Parolo, P. D. B., Kajanne, R., Lemmelä, S., Sipilä, T. P., Sipilä, T., Lyhs, U., Llorens, V., Niiranen, T., Kristiansson, K., Jiménez, M. G., Perola, M., Hiekkalinna, T., Mattsson, H., Laiho, P., Soini, S., Lehtonen, A., Pulkki, K., Heikkinen, S., Laukkanen, J., Laaksonen, R., Ritari, J., Partanen, J., Hyvärinen, K., Auro, K., Pitkänen, K., Mäkelä, T., Loukola, A., Joensuu, H., Sinisalo, J., Eklund, K., Aaltonen, L., Färkkilä, M., Carpen, O., Kauppi, P., Tienari, P., Ollila, T., Tuomi, T., Meretoja, T., Pitkäranta, A., Turunen, J., Hannula-Jouppi, K., Pikkarainen, S., Seitsonen, S., Koskinen, M., Palomäki, A., Voutilainen, M., Kettunen, J., Pelkonen, M., Julkunen, V., Lehtonen, H., Parkkinen, J., Linden, K., Jussila, A., Laitinen, T., Palin, K., Jauhiainen, M., Daly, M. J., Palotie, A., Taskinen, M-R. & Ripatti, S., 24 Sep 2019, In : Nature Communications. 10, 1, 14 p., 4329.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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 journalArticleScientificpeer-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 journalArticleScientificpeer-review

Open Access
File

Activities

  • 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

American journal of medical genetics (Journal)

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

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

Väitöskirja

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

Activity: Examination typesSupervisor or co-supervisor of doctoral thesis