18q12.3‐q21.1 microdeletion detected in the prenatally alcohol‐exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

por Kahila, Hanna, Marjonen, Heidi, Auvinen, Pauliina, Avela, Kristiina, Riikonen, Raili, Kaminen‐Ahola, Nina
Publicado 2020

Erratum to: high-resolution SNP array analysis of patients with developmental disorder and normal array CGH result

por Siggberg, Linda, Ala-Mello, Sirpa, Linnankivi, Tarja, Avela, Kristiina, Scheinin, Ilari, Kristiansson, Kati, Lahermo, Päivi, Hietala, Marja, Metsähonkala, Liisa, Kuusinen, Esa, Laaksonen, Maarit, Saarela, Janna, Knuutila, Sakari
Publicado 2014

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

por Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Publicado 2014

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

por 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, Abou Jaoude, Imad, Keymolen, Kathelijn, Saugier-Veber, Pascale, Lenaerts, Tom, Abramowicz, Marc, Pirson, Isabelle
Publicado 2023