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Mutations in ANTXR1 cause GAPO syndrome.
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S. Stránecký V, et al. Among authors: baxova a. Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18. Am J Hum Genet. 2013. PMID: 23602711 Free PMC article.
APOE epsilon4: a potential modulation factor in Rett syndrome.
Zahorakova D, Jachymova M, Kemlink D, Baxova A, Martasek P. Zahorakova D, et al. Among authors: baxova a. J Child Neurol. 2010 May;25(5):546-50. doi: 10.1177/0883073809346848. Epub 2010 Feb 5. J Child Neurol. 2010. PMID: 20139413
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.
Tesarova M, Baxova A, Hansikova H, Lambert L, Vondrackova A, Leiska A, Zeman J. Tesarova M, et al. Among authors: baxova a. Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14. Clin Dysmorphol. 2022. PMID: 35165208 No abstract available.
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.
Jirečková J, Magner M, Lambert L, Baxová A, Leiská A, Kopečková L, Fajkusová L, Zeman J. Jirečková J, et al. Among authors: baxova a. Prague Med Rep. 2018;119(4):156-164. doi: 10.14712/23362936.2019.3. Prague Med Rep. 2018. PMID: 30779700 Free article.
49 results