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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e.
Neurology. 2010.
PMID: 20956790
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H.
Liao Y, et al. Among authors: bellan koch a.
Brain. 2010 May;133(Pt 5):1403-14. doi: 10.1093/brain/awq057. Epub 2010 Apr 5.
Brain. 2010.
PMID: 20371507
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Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.
Kulozik AE, Bellan-Koch A, Bail S, Kohne E, Kleihauer E.
Kulozik AE, et al. Among authors: bellan koch a.
Blood. 1991 May 1;77(9):2054-8.
Blood. 1991.
PMID: 2018842
Free article.
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A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia.
Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E.
Kulozik AE, et al. Among authors: bellan koch a.
Blood. 1992 May 1;79(9):2455-9.
Blood. 1992.
PMID: 1571556
Free article.
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The proximal element of the beta globin locus control region is not functionally required in vivo.
Kulozik AE, Bail S, Bellan-Koch A, Bartram CR, Kohne E, Kleihauer E.
Kulozik AE, et al. Among authors: bellan koch a.
J Clin Invest. 1991 Jun;87(6):2142-6. doi: 10.1172/JCI115246.
J Clin Invest. 1991.
PMID: 2040696
Free PMC article.
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