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1.
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
BMC Med Genet
; 14: 50, 2013 May 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-23648064
2.
Regulatory variants of FOXG1 in the context of its topological domain organisation.
Eur J Hum Genet
; 26(2): 186-196, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29289958
3.
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Mol Cytogenet
; 8: 106, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26719771
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