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Author/Creator Teek, Rita

1. A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region. Issue 3 (20th December 2013)

Authors:
Simenson, Kristi; Õiglane‐Shlik, Eve; Teek, Rita; Kuuse, Kati; Õunap, Katrin
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 3(2014.)
Page Start:
806
Record Type:
Journal Article
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2. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Issue 8 (2nd June 2016)

Authors:
Reinson, Karit; Õiglane‐Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
2173
Record Type:
Journal Article
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3. Chromosomal microarray analysis as a first‐tier clinical diagnostic test: Estonian experience. Issue 2 (9th January 2014)

Authors:
Žilina, Olga; Teek, Rita; Tammur, Pille; Kuuse, Kati; Yakoreva, Maria; Vaidla, Eve; Mölter‐Väär, Triin; Reimand, Tiia; Kurg, Ants; Õunap, Katrin
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 2(2014:Mar.)
Page Start:
166
Record Type:
Journal Article
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4. Natural history of KBG syndrome in a large European cohort. Issue 24 (21st July 2022)

Authors:
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Ann...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 24(2022)
Page Start:
4131
Record Type:
Journal Article
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