Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients
Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K
Published in Advances in medical sciences (01.12.2013)
Published in Advances in medical sciences (01.12.2013)
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Journal Article
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.
Published in American journal of medical genetics. Part A (01.11.2004)
Published in American journal of medical genetics. Part A (01.11.2004)
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Journal Article
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children
Joost, K., Rodenburg, R.J., Piirsoo, A., van den Heuvel, L., Žordania, R., Põder, H., Talvik, I., Kilk, K., Soomets, U., Õunap, K.
Published in Molecular syndromology (01.09.2012)
Published in Molecular syndromology (01.09.2012)
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Journal Article
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency
Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.
Published in Molecular syndromology (01.09.2011)
Published in Molecular syndromology (01.09.2011)
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Journal Article
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.
Published in JIMD Reports - Case and Research Reports, 2011/2 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2011/2 (01.01.2012)
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Book Chapter
Journal Article
Neonatal screening for congenital hypothyroidism in Estonia
Mikelsaar, R V, Zordania, R, Viikmaa, M, Kudrjavtseva, G
Published in Journal of medical screening (01.01.1998)
Published in Journal of medical screening (01.01.1998)
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Journal Article
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
Published in Genetic testing and molecular biomarkers (01.08.2012)
Published in Genetic testing and molecular biomarkers (01.08.2012)
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Journal Article
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane-Shlik, E., Bartsch, O.
Published in American Journal of Medical Genetics Part A (01.11.2004)
Published in American Journal of Medical Genetics Part A (01.11.2004)
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