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1

Familial Williams-Beuren syndrome

�unap, Katrin, Laidre, Piret, Bartsch, Oliver, Rein, Reet, Lipping-Sitska, Mari

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 107 KB

english, 1998

2

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

Katrin Õunap, Helen Puusepp-Benazzouz, Maire Peters, Ulvi Vaher, Reet Rein, Anne Proos, Mike Field, Tiia Reimand

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2012

3

A Female With Angelman Syndrome and Unusual Limb Deformities

Eve Õiglane-Shlik, Reet Rein, Vallo Tillmann, Tiina Talvik, Katrin Õunap

Journal:

Pediatric Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 187 KB

english, 2005

4

Magnetic Resonance Imaging in Children With Bilateral Spastic Forms of Cerebral Palsy

Anu Sööt, Tiiu Tomberg, Pille Kool, Reet Rein, Tiina Talvik

Journal:

Pediatric Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 273 KB

english, 2008

5

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Õiglane-Shlik, Eve, Puusepp, Sanna, Talvik, Inga, Vaher, Ulvi, Rein, Reet, Tammur, Pille, Reimand, Tiia, Teek, Rita, Žilina, Olga, Tomberg, Tiiu, Õunap, Katrin

Journal:

European Journal of Paediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2014

6

Newly-diagnosed pediatric epilepsy is associated with elevated autoantibodies to glutamic acid decarboxylase but not cardiolipin

Veri, Kadi, Uibo, Oivi, Talvik, Tiina, Talvik, Inga, Metsküla, Kaja, Napa, Aita, Vaher, Ulvi, Õiglane-Šlik, Eve, Rein, Reet, Kolk, Anneli, Traat, Aili, Uibo, Raivo

Journal:

Epilepsy Research

Année:

2013

Langue:

english

Fichier:

PDF, 249 KB

english, 2013

7

The Live-Birth Prevalence of Mucopolysaccharidoses in Estonia

Krabbi, Külliki, Joost, Kairit, Zordania, Riina, Talvik, Inga, Rein, Reet, Huijmans, Jan G.M., Verheijen, Frans V., Õunap, Katrin

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2012

Langue:

english

Fichier:

PDF, 117 KB

english, 2012

8

Some practical aspects of the acceleration-deceleration method for ion kinetic energy focusing in matrix-assisted laser desorption/ionization Fourier transform ion cyclotron resonance mass spectrometry

Pikver, Rein, Past, Jaan, Subbi, Juhan, Aguraiuja, Reet, Lippmaa, Endel

Journal:

European Journal of Mass Spectrometry

Année:

2000

Langue:

english

Fichier:

PDF, 164 KB

english, 2000

9

Incidence of Childhood Epilepsy in Estonia

Veri, Kadi, Talvik, Inga, Vaher, Ulvi, Napa, Aita, Ilves, Pilvi, Uibo, Oivi, Õiglane-Shlik, Eve, Laugesaar, Rael, Rein, Reet, Kolk, Anneli, Noormets, Klari, Reimand, Tiia, Õunap, Katrin, Talvik, Tiina

Journal:

Journal of Child Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 196 KB

english, 2018

10

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, Murumets, Ülle, Õiglane-Shlik, Eve, Rein, Reet, Talvik, Inga, Rodenburg, Richard J., Õunap, Katrin

Journal:

Molecular Genetics and Metabolism Reports

Année:

2018

Langue:

english

Fichier:

PDF, 238 KB

english, 2018