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Brunet A, Armengol L, Pelaez T, Guillamat R, Vallès V, Gabau E, Estivill X, Guitart M. Behav Brain Funct. 2008 Feb 19;4:10
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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
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DetallesEvidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy
Alias L, Barceló MJ, Gich I, Estapé M, Parra J, Amenedo M, Baiget M, Tizzano EF. Eur J Hum Genet. 2007 Oct;15(10):1090-3. Epub 2007 Jul 11.1
Esophageal atresia in the Goldenhar syndrome
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