GÉNÉTIQUE DE L'HÉMOCHROMATOSE

Autor: LAMY, M., SCHAPIRA, G., FRÉZAL, J., MAROTEAUX, P.

Publikováno v: Acta Genetica et Statistica Medica, 1957 Jan 01. 7(1), 105-107.

Externí odkaz: https://www.jstor.org/stable/45104029

Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996

Autor: Povey, S, Attwood, J, Chadwick, B, Frezal, J, Haines, JL, Knowles, M, Kwiatkowski, DJ, Olopade, OI, Slaugenhaupt, S, Spurr, NK, Smith, M, Steel, K, White, JA, Pericak-Vance, MA

Publikováno v: Povey, S; Attwood, J; Chadwick, B; Frezal, J; Haines, JL; Knowles, M; et al.(1997). Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.. Annals of human genetics, 61(Pt 3), 183-206. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/23n2z8b0

The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from compar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::4a10655fa7ad45bdcf0865dfb01a1fb1
http://www.escholarship.org/uc/item/23n2z8b0

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses

Autor: Sylvie Odent, Sylvie Gerber, J.L. Dufier, Arnold Munnich, Frezal J, J. C. Kaplan, A Postel-Vinay, Nicolas Janin

Publikováno v: Journal of Medical Genetics. 31:222-223

Stargardt's disease is an autosomal recessive condition characterised by a rapid and bilateral loss of central vision at around 7 to 12 years, with typical changes in the macular and perimacular region. It is one of the most frequent causes of macula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7447965ad1241bf94b1031f7e0e8f46
https://doi.org/10.1136/jmg.31.3.222

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Mapping the Eye Diseases.

Autor: Frezal, J., Kaplan, J., Dollfus, H.

Publikováno v: Ophthalmic Paediatrics & Genetics; 1992, Vol. 13 Issue 2, p37-47, 11p