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87 enregistrements « 9 de 9 »

Mandell R, Packman S, Laframboise R, Golbus MS, Schmidt K, Workman L, Saudubray JM, Shih VE

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Article de revue

Prenat Diagn, 16 (5), p. 419-24, 1996, ISSN: 0197-3851.

Résumé | Liens:

Pitkänen S, Feigenbaum A, Laframboise R, Robinson BH

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.

Article de revue

J Inherit Metab Dis, 19 (5), p. 675-86, 1996, ISSN: 0141-8955.

Résumé | Liens:

Puck JM, Pepper AE, Bédard PM, Laframboise R

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

Article de revue

J Clin Invest, 95 (2), p. 895-9, 1995, ISSN: 0021-9738.

Résumé | Liens:

Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Article de revue

J Clin Invest, 90 (4), p. 1185-92, 1992, ISSN: 0021-9738.

Résumé | Liens:

John SW, Rozen R, Laframboise R, Laberge C, Scriver CR

Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.

Article de revue

Hum Mutat, 1 (1), p. 72-4, 1992, ISSN: 1059-7794.

| Liens:

John SW, Rozen R, Scriver CR, Laframboise R, Laberge C

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

Article de revue

Am J Hum Genet, 46 (5), p. 970-4, 1990, ISSN: 0002-9297.

Résumé | Liens:

John SW, Rozen R, Laframboise R, Laberge C, Scriver CR

Novel PKU mutation on haplotype 2 in French-Canadians.

Article de revue

Am J Hum Genet, 45 (6), p. 905-9, 1989, ISSN: 0002-9297.

Résumé | Liens:

87 enregistrements « 9 de 9 »
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