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Author/Creator Thiffault, I

1. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (5th June 2019)

Authors:
Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J
Journal:
Canadian journal of neurological sciences
Issue:
Volume 46(2019)Supplement 1
Page Start:
S34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (June 2019)

Authors:
Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J
Journal:
Canadian journal of neurological sciences
Issue:
Volume 46(2019)Supplement 1
Page Start:
S34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1. Issue 5 (1st May 2002)

Authors:
Hutter, P; Wijnen, J; Rey-Berthod, C; Thiffault, I; Verkuijlen, P; Farber, D; Hamel, N; Bapat, B; Thibodeau, S N; Burn, J; Wu, J; MacNamara, E; Heinimann, K; Chong, G; Foulkes, W D
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 5(2002)
Page Start:
323
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗