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Review and update of mutations causing Waardenburg syndrome.
Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
Hum Mutat. 2010.
PMID: 20127975
Free article.
Review.
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.
Haddad NM, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z, Pingault V, Mégarbané A.
Haddad NM, et al. Among authors: ente d.
Mol Syndromol. 2011 Jan;1(4):169-175. doi: 10.1159/000322891. Epub 2011 Jan 10.
Mol Syndromol. 2011.
PMID: 21373256
Free PMC article.
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Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O.
Azzedine H, et al. Among authors: ente d.
Neuromuscul Disord. 2003 May;13(4):341-6.
Neuromuscul Disord. 2003.
PMID: 12868504
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Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
Bouhouche A, et al. Among authors: ente d.
Brain. 2007 Apr;130(Pt 4):1062-75. doi: 10.1093/brain/awm014. Epub 2007 Mar 8.
Brain. 2007.
PMID: 17347251
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