Frezal J - Search Results

1

[Genetic counseling in ornithine carbamoyltransferase deficiency].

Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A. Pelet A, et al. Among authors: frezal j. Ann Biol Clin (Paris). 1988;46(7):455-9. Ann Biol Clin (Paris). 1988. PMID: 2903704 French.

2

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Bonneau D, Melki J, Briard ML, Munnich A, Dufier JL, Frézal J. Kaplan J, et al. Among authors: frezal j. Ann Genet. 1990;33(2):105-8. Ann Genet. 1990. PMID: 1978628

3

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: frezal j. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

4

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J. Kaplan J, et al. Among authors: frezal j. Ann Genet. 1990;33(3):152-4. Ann Genet. 1990. PMID: 2288459

5

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray JM, Frézal J, Munnich A, et al. Rey F, et al. Among authors: frezal j. Am J Hum Genet. 1988 Dec;43(6):914-21. Am J Hum Genet. 1988. PMID: 2904221 Free PMC article.

6

[Genetic counseling in neurofibromatosis. Apropos of a study of 53 families].

Toutain A, Kaplan J, Briard ML, Frézal J. Toutain A, et al. Among authors: frezal j. J Genet Hum. 1988 Jun;36(3):163-71. J Genet Hum. 1988. PMID: 3137311 French.

7

["Hepatitis" indicative of congenital ornithine carbamoyltransferase deficiency].

Ramos Alves J, Pinto Ribeiro J, Magalhaes J, Vilarinho L, Cathelineau L, Roth A, Charpentier C, Ogier H, Saudubray JM, Frezal J. Ramos Alves J, et al. Among authors: frezal j. Ann Pediatr (Paris). 1986 Feb;33(2):101-7. Ann Pediatr (Paris). 1986. PMID: 3963710 French. No abstract available.

8

[Evaluation of the risk in autosomal dominant diseases].

Kaplan J, Toutain A, Briard ML, Frézal J. Kaplan J, et al. Among authors: frezal j. J Genet Hum. 1988 Jun;36(3):265-74. J Genet Hum. 1988. PMID: 3411307 French.

9

Mapping the eye diseases.

Frézal J, Kaplan J, Dollfus H. Frézal J, et al. Ophthalmic Paediatr Genet. 1992 Jun;13(2):37-47. doi: 10.3109/13816819209087603. Ophthalmic Paediatr Genet. 1992. PMID: 1495766 Review.

10

[Cystic fibrosis: a gene at the end of the road].

Frézal J, Baumann C, Kaplan J. Frézal J, et al. Rev Prat. 1990 Jun 11;40(17):1543-7. Rev Prat. 1990. PMID: 2363010 French.

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