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Author/Creator Reymond, A

1. 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) ↗

2. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. Issue 3 (1st July 2005)

Authors:
Howald, C; Merla, G; Digilio, M C; Amenta, S; Lyle, R; Deutsch, S; Choudhury, U; Bottani, A; Antonarakis, S E; Fryssira, H; Dallapiccola, B; Reymond, A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 3(2006)
Page Start:
266
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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