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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 1
1996 1
1997 1
1998 2
1999 2
2002 1
2003 1
2004 1
2006 1
2007 1
2011 1
2014 1
2024 0

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PubMed (OMIM) for id: 8050

15 results

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Page 1
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. Ivanov IS, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25087164 Free article.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992
Leigh's disease due to a new mutation in the PDHX gene.
Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H. Schiff M, et al. Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818. Ann Neurol. 2006. PMID: 16566017
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
De Meirleir L, Lissens W, Benelli C, Marsac C, De Klerk J, Scholte J, van Diggelen O, Kleijer W, Seneca S, Liebaers I. De Meirleir L, et al. J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066. J Inherit Metab Dis. 1998. PMID: 9501264
15 results