The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Autor: Peluso, I., Conte, I., Testa, F., Dharmalingam, G., Pizzo, M., Collin, R.W.J., Meola, N., Barbato, S., Mutarelli, M., Ziviello, C., Barbarulo, A.M., Nigro, V., Melone, M.A., Simonelli, F., Banfi, S., Baere, E. de, Koenekoop, R.K., Leroy, B.P., Cremers, F.P., Kohl, S., Hamel, C., Ayuso, C., Wissinger, B., Inglehearn, C.F., Toomes, C., Hollander, A.I. den

Publikováno v: Orphanet Journal of Rare Diseases, 8, pp. 16
Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 16 (2013)
Orphanet Journal of Rare Diseases, 8, 16
Orphanet Journal of Rare Diseases; Vol 8
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases

BACKGROUND: Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b9635abda00c20d3d6ed2994f4830f3
http://hdl.handle.net/11588/784338

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Acute Respiratory Distress Syndrome in an Adult Patient with a Myelodysplastic Disorder.

Autor: Pentimone, F., Cini, G., Meola, N., Ferrannini, E.

Publikováno v: Acta Haematologica; 1983, Vol. 69 Issue 3, p208-211, 4p

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ACUTE RESPIRATORY-DISTRESS SYNDROME IN AN ADULT PATIENT WITH A MYELODYSPLASTIC DISORDER

Autor: Pentimone, F, Cini, G, Meola, N, Ferrannini, Eleuterio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3728::a1a32ad12ac831abfb65f020ba7ffed4
http://hdl.handle.net/11568/5375