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Title | Author(s) | Issue Date | |
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Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 Proceeding/Conference:European Human Genetics Conference 2017 | Schuurs-Hoeijmakers, JHMLandsverk, MLFoulds, NKukolich, MKGavrilova, RHGreville-Heygate, SHanson-Kahn, ABernstein, AGlass, JChitayat, DBurrow, TAHusami, ACollins, Kvan der Aa, NKooy, FBrown, KTGadzicki, DKini, UAlvarez, SFernández-Jaén, AMcGehee, FSelby, KTarailo-Graovac, MVan Allen, Avan Karnebeek, CDStavropoulos, DJMarshall, CRMerico, DGregor, AZweier, CHopkin, RJChu, YWChung, BHYde Vries, BBDevriendt, KHurles, MEBrunner, HG | 2017 | |
Exome sequencing of a pedigree with Caudal Regression Syndrome (CRS) Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012 | 2012 | ||
Global developmental delay and characteristic facial features associated with PACS1 mutation: report of two cases Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia | 2014 |