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Cornelia de Lange syndrome.
Clin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28.
Clin Genet. 2015.
PMID: 25209348
Review.
Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.
Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brøndum-Nielsen K, Bisgaard AM, Tümer Z.
Boyle MI, et al.
Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.
Gene. 2015.
PMID: 26164757
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Response to Dylan Mordaunt and Alisha McLauchlan.
Boyle MI, Tümer Z.
Boyle MI, et al.
Clin Genet. 2015 Jul;88(1):99-100. doi: 10.1111/cge.12587. Epub 2015 Apr 19.
Clin Genet. 2015.
PMID: 25807900
No abstract available.
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A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
Boyle MI, Jespersgaard C, Nazaryan L, Bisgaard AM, Tümer Z.
Boyle MI, et al.
Clin Genet. 2017 Apr;91(4):647-649. doi: 10.1111/cge.12863. Epub 2016 Nov 24.
Clin Genet. 2017.
PMID: 27882533
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