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The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|February 1, 1989
[The mother and infant with Steinert's myotonic dystrophy]G Paris, R Laframboise, J P Bouchard
Journal of Inherited Metabolic Disease|January 1, 1996
NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findingsS Pitkänen, A Feigenbaum, R Laframboise, et al.
Human Mutation|January 1, 1992
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locusS W John, C R Scriver, R Laframboise, et al.
American Journal of Human Genetics|August 1, 1994
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutationsR Rozen, A Mascisch, M Lambert, et al.
The Journal of Clinical Investigation|February 1, 1995
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiencyJ M Puck, A E Pepper, P M Bédard, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 1999
A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformationsH Devos, C Rodd, N Gagné, et al.
American Journal of Human Genetics|May 1, 1990
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutationsS W John, R Rozen, C R Scriver, et al.
American Journal of Human Genetics|December 1, 1989
Novel PKU mutation on haplotype 2 in French-CanadiansS W John, R Rozen, R Laframboise, et al.
Clinical Genetics|July 4, 2006
A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndromeF Durocher, R Faure, Y Labrie, et al.
The Journal of Clinical Investigation|October 1, 1992
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientD Phaneuf, M Lambert, R Laframboise, et al.
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