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Author/Creator Lyonnet, S

21. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. Issue 5 (27th January 2006)

Authors:
de Pontual, L; Pelet, A; Trochet, D; Jaubert, F; Espinosa-Parrilla, Y; Munnich, A; Brunet, J-F; Goridis, C; Feingold, J; Lyonnet, S; Amiel, J
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
419
Record Type:
Journal Article
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23. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. (4th October 2012)

Authors:
Thauvin‐Robinet, C; Thomas, S; Sinico, M; Aral, B; Burglen, L; Gigot, N; Dollfus, H; Rossignol, S; Raynaud, M; Philippe, C; Badens, C; Touraine, R; Gomes, C; Franco, B; Lopez, E; Elkhartoufi, N; Faivre, L; Munnich, A; Boddaert, N; Maldergem, L Van
Journal:
Clinical genetics
Issue:
Volume 84:Number 1(2013:Jul.)
Page Start:
86
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

24. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Issue 3 (16th September 2005)

Authors:
Sanlaville, D; Etchevers, H C; Gonzales, M; Martinovic, J; Clément-Ziza, M; Delezoide, A-L; Aubry, M-C; Pelet, A; Chemouny, S; Cruaud, C; Audollent, S; Esculpavit, C; Goudefroye, G; Ozilou, C; Fredouille, C; Joye, N; Morichon-Delvallez, N; Dumez, Y; Weissenbach, J; Munnich, A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 3(2006)
Page Start:
211
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

28. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗