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Author/Creator Le Merrer, M

2. 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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3. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. Issue 4 (1st April 2002)

Authors:
Rio, M; Molinari, F; Heuertz, S; Ozilou, C; Gosset, P; Raoul, O; Cormier-Daire, V; Amiel, J; Lyonnet, S; Le Merrer, M; Turleau, C; de Blois, M-C; Prieur, M; Romana, S; Vekemans, M; Munnich, A; Colleaux, L
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 4(2002)
Page Start:
266
Record Type:
Journal Article
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4. 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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7. 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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