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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D. Tran Mau-Them F, et al. Among authors: puechberty j. Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674175 Free PMC article.
Analysis of sperm aneuploidy by PRINS.
Pellestor F, Andréo B, Puechberty J, Lefort G, Sarda P. Pellestor F, et al. Among authors: puechberty j. Methods Mol Biol. 2006;334:49-59. doi: 10.1385/1-59745-068-5:49. Methods Mol Biol. 2006. PMID: 16861752
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Manvelyan M, Hunstig F, Lefort G, Weise A, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F. Bhatt S, et al. Among authors: puechberty j. Eur J Hum Genet. 2009 Jan;17(1):44-50. doi: 10.1038/ejhg.2008.144. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685557 Free PMC article.
66 results