Publications by authors named "Reet Rein"

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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Niccolò E Mencacci, Marisa M Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Reet Rein, Karit Reinson

J Clin Invest· April 2021

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Incidence of Childhood Epilepsy in Estonia.
Kadi Veri, Inga Talvik, Ulvi Vaher, Aita Napa, Pilvi Ilves, Reet Rein

J Child Neurol· August 2018

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein

Mol Genet Metab Rep· June 2018

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Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
Eve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, Ulvi Vaher, Reet Rein

Eur J Paediatr Neurol· May 2014

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Newly-diagnosed pediatric epilepsy is associated with elevated autoantibodies to glutamic acid decarboxylase but not cardiolipin.
Kadi Veri, Oivi Uibo, Tiina Talvik, Inga Talvik, Kaja Metsküla, Reet Rein

Epilepsy Res· July 2013

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The live-birth prevalence of mucopolysaccharidoses in Estonia.
Külliki Krabbi, Kairit Joost, Riina Zordania, Inga Talvik, Reet Rein

Genet Test Mol Biomarkers· August 2012

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A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
Katrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, Ulvi Vaher, Reet Rein

Eur J Med Genet· March 2012

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Magnetic resonance imaging in children with bilateral spastic forms of cerebral palsy.
Anu Sööt, Tiiu Tomberg, Pille Kool, Reet Rein, Tiina Talvik

Pediatr Neurol· May 2008

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A female with Angelman syndrome and unusual limb deformities.
Eve Oiglane-Shlik, Reet Rein, Vallo Tillmann, Tiina Talvik, Katrin Ounap

Pediatr Neurol· July 2005

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