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Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29.
J Med Genet. 2007.
PMID: 17601928
Free PMC article.
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.
Zweier C, et al. Among authors: dreweke a.
Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23.
Am J Hum Genet. 2007.
PMID: 17436255
Free PMC article.
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