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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. Betsalel OT, et al. Among authors: martinez munoz c. Neurogenetics. 2008 Jul;9(3):183-90. doi: 10.1007/s10048-008-0125-5. Epub 2008 Mar 19. Neurogenetics. 2008. PMID: 18350323
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, Martinez-Muñoz C, Jakobs C, Salomons GS. Almeida LS, et al. Among authors: martinez munoz c. Mol Genet Metab. 2007 May;91(1):1-6. doi: 10.1016/j.ymgme.2007.01.005. Epub 2007 Mar 1. Mol Genet Metab. 2007. PMID: 17336114
Mutational analysis of Bax and Bcl-2 in childhood acute lymphoblastic leukaemia.
Salomons GS, Buitenhuis CK, Martínez Muñoz C, Verwijs-Jassen M, Behrendt H, Zsiros J, Smets LA. Salomons GS, et al. Among authors: martinez munoz c. Int J Cancer. 1998 Jun 19;79(3):273-7. doi: 10.1002/(sici)1097-0215(19980619)79:3<273::aid-ijc11>3.0.co;2-9. Int J Cancer. 1998. PMID: 9645350 Free article.
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