Munnich A - Search Results

1

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

Rozet JM, Gerber S, Perrault I, Camuzat A, Calvas P, Viegas-Pequignot E, Molina-Gomes D, Le Paslier D, Chumakov I, Munnich A, Kaplan J. Rozet JM, et al. Among authors: munnich a. Genomics. 1996 Sep 15;36(3):554-6. doi: 10.1006/geno.1996.0508. Genomics. 1996. PMID: 8884286 No abstract available.

2

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: munnich a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

3

[Molecular genetics and prenatal diagnosis].

Lyonnet S, Rozet JM, Martin C, Munnich A. Lyonnet S, et al. Among authors: munnich a. Pediatrie. 1992;47(5):359-63. Pediatrie. 1992. PMID: 1359503 French.

4

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

5

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. Rötig A, et al. Among authors: munnich a. Genomics. 1991 Jun;10(2):502-4. doi: 10.1016/0888-7543(91)90342-c. Genomics. 1991. PMID: 1712754

6

Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.

Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Hentati A, et al. Among authors: munnich a. Genomics. 1992 Jan;12(1):155-7. doi: 10.1016/0888-7543(92)90419-s. Genomics. 1992. PMID: 1733853

7

[Molecular genetics and prenatal diagnosis. Status and perspectives].

Munnich A, Lyonnet S, Kaplan J, Briard ML. Munnich A, et al. Ann Pediatr (Paris). 1991 Dec;38(10):651-4. Ann Pediatr (Paris). 1991. PMID: 1772203 Review. French. No abstract available.

8

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: munnich a. Ann Genet. 1990;33(2):105-8. Ann Genet. 1990. PMID: 1978628

9

Clinical and genetic heterogeneity in retinitis pigmentosa.

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

10

[Prenatal diagnosis of various hereditary blinding diseases].

Michel-Awad A, Kaplan J, Briard ML, Turleau C, de Grouchy J, Munnich A, Dufier JL, Frezal J. Michel-Awad A, et al. Among authors: munnich a. Ophtalmologie. 1990 May-Jun;4(3):237-9. Ophtalmologie. 1990. PMID: 2250955 French.

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