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Author/Creator Heron, D

1. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Issue 11 (13th July 2006)

Authors:
Jacquemont, M-L; Sanlaville, D; Redon, R; Raoul, O; Cormier-Daire, V; Lyonnet, S; Amiel, J; Le Merrer, M; Heron, D; de Blois, M-C; Prieur, M; Vekemans, M; Carter, N P; Munnich, A; Colleaux, L; Philippe, A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 11(2006)
Page Start:
843
Record Type:
Journal Article
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4. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. Issue 11 (6th July 2007)

Authors:
Saillour, Y; Zanni, G; Des Portes, V; Heron, D; Guibaud, L; Iba-Zizen, M T; Pedespan, J L; Poirier, K; Castelnau, L; Julien, C; Franconnet, C; Bonthron, D; Porteous, M E; Chelly, J; Bienvenu, T
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 11(2007)
Page Start:
739
Record Type:
Journal Article
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7. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (18th March 2013)

Authors:
Callier, P; Aral, B; Hanna, N; Lambert, S; Dindy, H; Ragon, C; Payet, M; Collod‐Beroud, G; Carmignac, V; Delrue, MA; Goizet, C; Philip, N; Busa, T; Dulac, Y; Missotte, I; Sznajer, Y; Toutain, A; Francannet, C; Megarbane, A; Julia, S
Journal:
Clinical genetics
Issue:
Volume 84:Number 6(2013:Dec.)
Page Start:
507
Record Type:
Journal Article
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8. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Issue 2 (20th January 2006)

Authors:
Pasquier, L; Laugel, V; Lazaro, L; Dollfus, H; Journel, H; Edery, P; Goldenberg, A; Martin, D; Heron, D; Le Merrer, M; Rustin, P; Odent, S; Munnich, A; Sarasin, A; Cormier-Daire, V
Journal:
Archives of disease in childhood
Issue:
Volume 91:Issue 2(2006)
Page Start:
178
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗