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1.
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
Am J Med Genet A
; 170A(4): 891-5, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26686323
2.
Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
Am J Med Genet A
; 167A(10): 2463-9, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26219535
3.
Clinical whole-exome sequencing: are we there yet?
Genet Med
; 16(9): 717-9, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24525916
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