Search Results - "Žordania, R."

  • Showing 1 - 11 results of 11
Refine Results
  1. 1

    Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients by 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)
    “…The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000–2009. The study group…”
    Get full text
    Journal Article
  2. 2

    Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control by Krabbi, K., Uudelepp, M.-L., Joost, K., Zordania, R., Õunap, K.

    Published in Molecular genetics and metabolism (01-07-2011)
    “…The main aim of our study was to retrospectively evaluate long-term complications and measure urinary galactose and galactitol excretion in classical…”
    Get full text
    Journal Article
  3. 3

    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 by Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.

    “…It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 (the genes for doublesex…”
    Get full text
    Journal Article
  4. 4

    A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children by 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)
    “…Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for…”
    Get full text
    Journal Article
  5. 5

    Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency by 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)
    “…Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation…”
    Get full text
    Journal Article
  6. 6

    Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia by Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.

    “…The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and…”
    Get full text
    Book Chapter Journal Article
  7. 7

    Serum lipid and apolipoprotein profiles in newborns and six-year-old children: The Tallinn Young Family Study by Kurvinen, E., Aasvee, K., Zordania, R., Jauhiainen, M., Sundvall, J.

    “…Seventy children aged 6 years (34 boys, 36 girls) were studied for cardiovascular risk factors. Among the children 40 had also been investigated at birth. The…”
    Get full text
    Journal Article
  8. 8

    Neonatal screening for congenital hypothyroidism in Estonia by Mikelsaar, R V, Zordania, R, Viikmaa, M, Kudrjavtseva, G

    Published in Journal of medical screening (01-01-1998)
    “…Screening for congenital hypothyroidism was carried out by measuring thyroid stimulating hormone (TSH) on dried blood spots (mean + 2SD cut off value 12…”
    Get more information
    Journal Article
  9. 9

    The live-birth prevalence of mucopolysaccharidoses in Estonia by 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)
    “…Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data…”
    Get more information
    Journal Article
  10. 10

    Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia by Reimand, Tiia, Uibo, Oivi, Zordania, Riina, Palmiste, Veronika, Ounap, Katrin, Tqlvik, Tiina

    Published in Community genetics (2003)
    “…Parents of children with mental or physical disabilities have been assumed to live more stressful lives than other parents, and people with Down syndrome (DS)…”
    Get more information
    Journal Article
  11. 11