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Items: 20

1.

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T.

Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011. Epub 2015 Dec 3.

PMID:
26782017
2.

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K.

Genet Test Mol Biomarkers. 2015 Dec;19(12):684-91. doi: 10.1089/gtmb.2015.0163. Epub 2015 Oct 27.

PMID:
26505556
3.

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.

Mascelli S, Nozza P, Sak K, Joost K, Cama A, Capra V, Garrè ML, Raso A.

Pediatr Blood Cancer. 2016 Jan;63(1):179. doi: 10.1002/pbc.25671. Epub 2015 Jul 16. No abstract available.

PMID:
26185030
4.

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
5.

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.

6.

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.

7.

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
8.

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.

9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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
15.

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.

16.

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
17.

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
18.

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
19.

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
20.

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
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