A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

por Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin
Publicado 2019

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

por Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter-Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin
Publicado 2014

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

por Sarv, Siiri, Kahre, Tiina, Vaidla, Eve, Pajusalu, Sander, Muru, Kai, Põder, Haide, Gross-Paju, Katrin, Ütt, Sandra, Žordania, Riina, Talvik, Inga, Õiglane-Shlik, Eve, Muhu, Kristina, Õunap, Katrin
Publicado 2021