The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

por Pajusalu, Sander, Vals, Mari-Anne, Mihkla, Laura, Šamarina, Ustina, Kahre, Tiina, Õunap, Katrin
Publicado 2021

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction

por Ilves, Norman, Pajusalu, Sander, Kahre, Tiina, Laugesaar, Rael, Šamarina, Ustina, Loorits, Dagmar, Kool, Pille, Ilves, Pilvi
Publicado 2023

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

por Lilleväli, Hardo, Reinson, Karit, Muru, Kai, Saarsalu, Siret, Künnapas, Kadi, Kahre, Tiina, Murumets, Ülle, Õunap, Katrin
Publicado 2019

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period

por Tiivoja, Elis, Reinson, Karit, Muru, Kai, Rähn, Kristi, Muhu, Kristina, Mauring, Laura, Kahre, Tiina, Pajusalu, Sander, Õunap, Katrin
Publicado 2022

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021

por Roht, Laura, Tooming, Mikk, Rekker, Kadri, Roomere, Hanno, Toome, Kadri, Murumets, Ülle, Šamarina, Ustina, Õunap, Katrin, Kahre, Tiina
Publicado 2022

A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies

por Ridnõi, Konstantin, Muru, Kai, Keernik, Maria, Pajusalu, Sander, Ustav, Eva‐Liina, Tammur, Pille, Mölter‐Väär, Triin, Kahre, Tiina, Šamarina, Ustina, Asser, Karin, Szirko, Ferenc, Reimand, Tiia, Õunap, Katrin
Publicado 2021

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

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

por Zhytnik, Lidiia, Peters, Maire, Tilk, Kadi, Reimand, Tiia, Ilisson, Piret, Kahre, Tiina, Murumets, Ülle, Ehrenberg, Aivar, Ustav, Eva-Liina, Tõnisson, Neeme, Mölder, Signe, Teder, Hindrek, Krjutškov, Kaarel, Salumets, Andres
Publicado 2022

AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

por Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin
Publicado 2023

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population

por Roht, Laura, Laidre, Piret, Tooming, Mikk, Tõnisson, Neeme, Nõukas, Margit, Nurm, Miriam, Roomere, Hanno, Rekker, Kadri, Toome, Kadri, Fjodorova, Olga, Murumets, Ülle, Šamarina, Ustina, Pajusalu, Sander, Aaspõllu, Anu, Salumäe, Liis, Muhu, Kristina, Soplepmann, Jaan, Õunap, Katrin, Kahre, Tiina
Publicado 2023

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

por Jürgens, Hannes, Roht, Laura, Leitsalu, Liis, Nõukas, Margit, Palover, Marili, Nikopensius, Tiit, Reigo, Anu, Kals, Mart, Kallak, Kersti, Kütner, Riina, Budrikas, Kai, Kuusk, Saskia, Valvere, Vahur, Laidre, Piret, Toome, Kadri, Rekker, Kadri, Tooming, Mikk, Ülle Murumets, Kahre, Tiina, Kruuv-Käo, Krista, Õunap, Katrin, Padrik, Peeter, Metspalu, Andres, Esko, Tõnu, Fischer, Krista, Tõnisson, Neeme
Publicado 2022