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1.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33988290
2.
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Hum Mol Genet
; 25(10): 1912-1922, 2016 05 15.
Article
in English
| MEDLINE | ID: mdl-26931467
3.
Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.
Mol Syndromol
; 6(1): 39-43, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25852446
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