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Items: 3

1.

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Pacheva I, Todorov T, Halil Z, Yordanova R, Todorova A, Geneva I, Galabova F, Ivanov I.

Am J Med Genet A. 2019 Jun;179(6):1020-1024. doi: 10.1002/ajmg.a.61110. Epub 2019 Mar 13.

PMID:
30868738
2.

Epilepsy in Children with Autistic Spectrum Disorder.

Pacheva I, Ivanov I, Yordanova R, Gaberova K, Galabova F, Panova M, Petkova A, Timova E, Sotkova I.

Children (Basel). 2019 Jan 25;6(2). pii: E15. doi: 10.3390/children6020015.

3.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21.

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