MD, PhD, Adjunct professor Kristiina Avela - UTU Research Portal

Kristiina Avela
MD, PhD, Adjunct professor

kristiina.avela@utu.fi

+358 29 450 3543

+358 50 303 7555

Miten sairaudet periytyvät (2025) Lääketieteellinen genetiikka Avela, Kristiina
Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features (2024)
- Pediatric Dermatology
Hyvönen, Hanna; Kettunen, Kaisa; Avela, Kristiina; Kivirikko, Sirpa; Jeskanen, Leila; Suominen, Sinikka; Salminen, Päivi; Hannula‐Jouppi, Katariina
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders (2024)
- Scientific Reports
Schrauwen Isabelle, Rajendran Yasmin, Acharya Anushree, Öhman Susanna, Arvio Maria, Paetau Ritva, Siren Auli, Avela Kristiina, Granvik Johanna, Leal Suzanne M., Määttä Tuomo, Kokkonen Hannaleena, Järvelä Irma
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. (2023)
- Human Genomics
Jacquemin Valerie, Versbraegen Nassim, Duerinckx Sarah, Massart Annick, Soblet Julie, Perazzolo Camille, Deconinck Nicolas, Brischoux-Boucher Elise, De Leener Anne, Revencu Nicole, Janssens Sandra, Moorgat Stèphanie, Blaumeiser Bettina, Avela Kristiina, Touraine Renaud, Jaoude Imad Abou, Keymolen Kathelijn, Saugier-Veber Pascale, Lenaerts Tom, Abramowicz Marc, Pirson Isabelle