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2014 | 1 |
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Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):642-6. doi: 10.1002/bdra.23276. Epub 2014 Jul 21.
Birth Defects Res A Clin Mol Teratol. 2014.
PMID: 25044326
Free PMC article.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.
Mougou-Zerelli S, et al.
Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116.
Hum Mutat. 2009.
PMID: 19777577
Free PMC article.
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