Mari‐Anne Vals

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

Mari‐Anne Vals, Tiina Kahre, Pille Mee et al. · Molecular Syndromology · 2015 · 49 citations · Full text

Beckwith-wiedemann Syndrome, Developmental Anomaly, Beckwith-wiedemann Syndromes +15

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

Mari‐Anne Vals, Angel Ashikov, Pilvi Ilves et al. · Journal of Inherited Metabolic Disease · 2019 · 49 citations

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

Maria Yakoreva, Tiina Kahre, Riina Žordania et al. · European Journal of Human Genetics · 2019 · 40 citations · Full text

Retrospective Analysis, Psychiatry

High incidence of low vitamin B12 levels in Estonian newborns

Karit Reinson, Kadi Künnapas, Annika Kriisa et al. · Molecular Genetics and Metabolism Reports · 2018 · 37 citations · Full text

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

Mari‐Anne Vals, Sander Pajusalu, Mart Kals et al. · JIMD Reports · 2017 · 35 citations · Full text