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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.
Ann Neurol. 2017.
PMID: 28380698
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T.
Szczaluba K, et al. Among authors: spodar k.
Neurology. 2006 Dec 12;67(11):2073-5. doi: 10.1212/01.wnl.0000247833.29314.5b. Epub 2006 Nov 2.
Neurology. 2006.
PMID: 17082467
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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group.
Jezela-Stanek A, et al.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16.
J Inherit Metab Dis. 2010.
PMID: 20556518
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Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
Jezela-Stanek A, Dobrzańska A, Maksym-Gąsiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
Jezela-Stanek A, et al. Among authors: spodar k.
Clin Dysmorphol. 2009 Jan;18(1):13-17. doi: 10.1097/MCD.0b013e328317c884.
Clin Dysmorphol. 2009.
PMID: 18955897
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Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M.
Jezela-Stanek A, et al. Among authors: spodar k.
Clin Genet. 2006 Jan;69(1):77-85. doi: 10.1111/j.1399-0004.2006.00551.x.
Clin Genet. 2006.
PMID: 16451140
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Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).
Gajecka M, Saadeh R, Mackay KL, Glotzbach CD, Spodar K, Chitayat D, Shaffer LG.
Gajecka M, et al. Among authors: spodar k.
Am J Med Genet A. 2008 Nov 1;146A(21):2777-84. doi: 10.1002/ajmg.a.32427.
Am J Med Genet A. 2008.
PMID: 18958851
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