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Conference Paper: Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1
| Title | Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 |
|---|---|
| Authors | 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 |
| Issue Date | 2017 |
| Citation | ESHG European Human Genetics Conference 2017, Copenhagen, Denmark, 27-30 May 2017 How to Cite? |
| Description | Poster presentation: P08 Intellectual Disability: no. P08.54B |
| Persistent Identifier | http://hdl.handle.net/10722/241730 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Schuurs-Hoeijmakers, JHM | - |
| dc.contributor.author | Landsverk, ML | - |
| dc.contributor.author | Foulds, N | - |
| dc.contributor.author | Kukolich, MK | - |
| dc.contributor.author | Gavrilova, RH | - |
| dc.contributor.author | Greville-Heygate, S | - |
| dc.contributor.author | Hanson-Kahn, A | - |
| dc.contributor.author | Bernstein, A | - |
| dc.contributor.author | Glass, J | - |
| dc.contributor.author | Chitayat, D | - |
| dc.contributor.author | Burrow, TA | - |
| dc.contributor.author | Husami, A | - |
| dc.contributor.author | Collins, K | - |
| dc.contributor.author | van der Aa, N | - |
| dc.contributor.author | Kooy, F | - |
| dc.contributor.author | Brown, KT | - |
| dc.contributor.author | Gadzicki, D | - |
| dc.contributor.author | Kini, U | - |
| dc.contributor.author | Alvarez, S | - |
| dc.contributor.author | Fernández-Jaén, A | - |
| dc.contributor.author | McGehee, F | - |
| dc.contributor.author | Selby, K | - |
| dc.contributor.author | Tarailo-Graovac, M | - |
| dc.contributor.author | Van Allen, A | - |
| dc.contributor.author | van Karnebeek, CD | - |
| dc.contributor.author | Stavropoulos, DJ | - |
| dc.contributor.author | Marshall, CR | - |
| dc.contributor.author | Merico, D | - |
| dc.contributor.author | Gregor, A | - |
| dc.contributor.author | Zweier, C | - |
| dc.contributor.author | Hopkin, RJ | - |
| dc.contributor.author | Chu, YW | - |
| dc.contributor.author | Chung, BHY | - |
| dc.contributor.author | de Vries, BB | - |
| dc.contributor.author | Devriendt, K | - |
| dc.contributor.author | Hurles, ME | - |
| dc.contributor.author | Brunner, HG | - |
| dc.date.accessioned | 2017-06-20T01:47:46Z | - |
| dc.date.available | 2017-06-20T01:47:46Z | - |
| dc.date.issued | 2017 | - |
| dc.identifier.citation | ESHG European Human Genetics Conference 2017, Copenhagen, Denmark, 27-30 May 2017 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/241730 | - |
| dc.description | Poster presentation: P08 Intellectual Disability: no. P08.54B | - |
| dc.language | eng | - |
| dc.relation.ispartof | European Human Genetics Conference 2017 | - |
| dc.title | Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 | - |
| dc.type | Conference_Paper | - |
| dc.identifier.email | Chung, BHY: bhychung@hku.hk | - |
| dc.identifier.authority | Chung, BHY=rp00473 | - |
| dc.identifier.hkuros | 272688 | - |
| dc.identifier.hkuros | 274586 | - |