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Author/Creator Journel, H

1. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. Issue 1 (1st January 2001)

Authors:
de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, B M; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A
Journal:
Journal of medical genetics
Issue:
Volume 38:Issue 1(2001)
Page Start:
14
Record Type:
Journal Article
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3. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. Issue 1 (9th July 2009)

Authors:
Le Meur, N; Holder-Espinasse, M; Jaillard, S; Goldenberg, A; Joriot, S; Amati-Bonneau, P; Guichet, A; Barth, M; Charollais, A; Journel, H; Auvin, S; Boucher, C; Kerckaert, J-P; David, V; Manouvrier-Hanu, S; Saugier-Veber, P; Frébourg, T; Dubourg, C; Andrieux, J; Bonneau, D
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 1(2010)
Page Start:
22
Record Type:
Journal Article
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5. 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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6. 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) ↗