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Author/Creator Zweier, C

2. Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. Issue 11 (26th August 2008)

Authors:
Zweier, C; Sticht, H; Bijlsma, E K; Clayton-Smith, J; Boonen, S E; Fryer, A; Greally, M T; Hoffmann, L; den Hollander, N S; Jongmans, M; Kant, S G; King, M D; Lynch, S A; McKee, S; Midro, A T; Park, S-M; Ricotti, V; Tarantino, E; Wessels, M; Peippo, M
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 11(2008)
Page Start:
738
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study. (26th April 2013)

Authors:
Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodríguez‐Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; Cueto‐González, AM; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R
Journal:
Clinical genetics
Issue:
Volume 84:Number 6(2013:Dec.)
Page Start:
539
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. Issue 5 (9th September 2005)

Authors:
Hoornaert, K P; Dewinter, C; Vereecke, I; Beemer, F A; Courtens, W; Fryer, A; Fryssira, H; Lees, M; Müllner-Eidenböck, A; Rimoin, D L; Siderius, L; Superti-Furga, A; Temple, K; Willems, P J; Zankl, A; Zweier, C; De Paepe, A; Coucke, P; Mortier, G R
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
406
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗