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1.
22q11.2 duplications: Expanding the clinical presentation.
Am J Med Genet A
; 188(3): 779-787, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34845825
2.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32483341
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