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Results: 17

1.

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, Ounap K.

Adv Med Sci. 2013;58(2):419-28. doi: 10.2478/ams-2013-0001.

PMID:
24222258
[PubMed - indexed for MEDLINE]
2.

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

Joost K, Ounap K, Zordania R, Uudelepp ML, Olsen RK, Kall K, Kilk K, Soomets U, Kahre T.

JIMD Rep. 2012;2:79-85. doi: 10.1007/8904_2011_51. Epub 2011 Sep 6.

PMID:
23430857
[PubMed]
Free PMC Article
3.

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.

Joost K, Rodenburg RJ, Piirsoo A, van den Heuvel L, Zordania R, Põder H, Talvik I, Kilk K, Soomets U, Ounap K.

Mol Syndromol. 2012 Sep;3(3):113-119. Epub 2012 Jul 25.

PMID:
23112753
[PubMed]
Free PMC Article
4.

Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.

Mascelli S, Raso A, Biassoni R, Severino M, Sak K, Joost K, Milanaccio C, Barra S, Grillo-Ruggieri F, Vanni I, Consales A, Cama A, Capra V, Nozza P, Garrè ML.

J Neurooncol. 2012 Sep;109(3):477-84. doi: 10.1007/s11060-012-0925-1. Epub 2012 Jul 22.

PMID:
22821382
[PubMed - indexed for MEDLINE]
5.

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Krabbi K, Joost K, Zordania R, Talvik I, Rein R, Huijmans JG, Verheijen FV, Õunap K.

Genet Test Mol Biomarkers. 2012 Aug;16(8):846-9. doi: 10.1089/gtmb.2011.0307. Epub 2012 Apr 5.

PMID:
22480138
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency.

Joost K, Tammur P, Teek R, Zilina O, Peters M, Kreile M, Lace B, Zordania R, Talvik I, Ounap K.

Mol Syndromol. 2011 Sep;1(6):311-315. Epub 2011 Sep 14.

PMID:
22190902
[PubMed]
Free PMC Article
7.

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

Krabbi K, Uudelepp ML, Joost K, Zordania R, Õunap K.

Mol Genet Metab. 2011 Jul;103(3):249-53. doi: 10.1016/j.ymgme.2011.03.023. Epub 2011 Apr 2.

PMID:
21501963
[PubMed - indexed for MEDLINE]
8.

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. doi: 10.1016/j.ijporl.2010.05.026. Epub 2010 Jun 18.

PMID:
20708129
[PubMed - indexed for MEDLINE]
9.

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K.

Pediatr Neurol. 2010 Mar;42(3):227-30. doi: 10.1016/j.pediatrneurol.2009.10.004.

PMID:
20159436
[PubMed - indexed for MEDLINE]
10.

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.

Ounap K, Joost K, Temberg T, Krabbi K, Tõnisson N.

J Inherit Metab Dis. 2010 Apr;33(2):175-6. doi: 10.1007/s10545-010-9045-2. Epub 2010 Feb 12. No abstract available.

PMID:
20151200
[PubMed - indexed for MEDLINE]
11.

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, Tõnisson N, Gardner P, Schrijver I, Kull M, Ounap K.

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):103-7. doi: 10.1016/j.ijporl.2008.10.003. Epub 2008 Nov 22.

PMID:
19027966
[PubMed - indexed for MEDLINE]
12.

Patient satisfaction and side effects in primary care: an observational study comparing homeopathy and conventional medicine.

Marian F, Joost K, Saini KD, von Ammon K, Thurneysen A, Busato A.

BMC Complement Altern Med. 2008 Sep 18;8:52. doi: 10.1186/1472-6882-8-52.

PMID:
18801188
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Leg-extension strength and chair-rise performance in elderly women with Parkinson's disease.

Pääsuke M, Ereline J, Gapeyeva H, Joost K, Mõttus K, Taba P.

J Aging Phys Act. 2004 Oct;12(4):511-24.

PMID:
15851823
[PubMed - indexed for MEDLINE]
14.

Appearance of Leishmania donovani (Kenya strain) in the blood of experimentally infected golden hamsters (Mesocricetus auratus).

Van Joost KS, Sluiters JF.

Trop Geogr Med. 1972 Sep;24(3):292-7. No abstract available.

PMID:
4636103
[PubMed - indexed for MEDLINE]
15.

Pathogenicity of Ancylostoma ceylanicum. VI. Lethal blood loss in hookworm infection.

Rep BH, van Joost KS, Vetter JC.

Trop Geogr Med. 1971 Jun;23(2):184-93. No abstract available.

PMID:
4936222
[PubMed - indexed for MEDLINE]
16.

Differences in resistance against kala-azar (Kenya strain) between males and females.

Wijers DJ, van Joost KS, Janssen JA, Lommers LH.

Trop Geogr Med. 1969 Dec;21(4):436-42. No abstract available.

PMID:
5384156
[PubMed - indexed for MEDLINE]
17.

Pathogenicity of ancylostoma ceylanicum. V. Blood loss of the host and sexual behaviour of the hookworms.

Rep BH, Vetter JC, Eysker M, Van Joost KS.

Trop Geogr Med. 1968 Jun;20(2):177-86. No abstract available.

PMID:
5690283
[PubMed - indexed for MEDLINE]

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