043 Spinal muscular atrophy in Greece

Autor: Kyriaki Kekou, Sotiris Youroukos, C. Bili, C. Metaxotou, C. Tsengi, L. Florentin, G. Konstantinidis, H. Frysira

Publikováno v: European Journal of Paediatric Neurology. 3:A122-A123

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06e7554235290839e717653ca84f5b2f
https://doi.org/10.1016/s1090-3798(99)91312-0

Molecular analysis of SMA families in greece

Autor: C. Metaxotou, A. Maurou, E. Dafermou-Papadopoulou, S. Youroukos, C. Bili, L. Florentin

Publikováno v: Pediatric Neurology. 11:101

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::890a15f0f229f4bcf269c45765822140
https://doi.org/10.1016/0887-8994(94)90207-0

The use of a non-standard high calcium fly ash in concrete and its response to accelerated curing

Autor: C. D. Atis, C. Bilim, F. Ozcan, K. Akcaozoglu, U. K. Sevim

Publikováno v: Materiales de Construccion, Vol 52, Iss 267, Pp 5-17 (2002)

An experimental work was carried out to investigate the use of a non-standard high calcium fly ash in concrete. The response of the same fly ash to the accelerated curing was also explored. With three different cementitious material contents, a total

Externí odkaz: https://doaj.org/article/385d993682b8475894eedf60fb29a164

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Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations.

Autor: Antoniadi M; Pediatric Department, Penteli Children's Hospital, Athens, Greece., Lambrou D; Pediatric Department, Penteli Children's Hospital, Athens, Greece., Mylona F; Pediatric Department, Penteli Children's Hospital, Athens, Greece., Florentin L; AlfaLab Genetics and Genomics Center Athens, Athens, Greece., Bili C; AlfaLab Genetics and Genomics Center Athens, Athens, Greece., Stefanidis CJ; Mitera Children's Hospital, Athens, Greece., Kostaridou S; Pediatric Department, Penteli Children's Hospital, Athens, Greece.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2023 Aug 08; Vol. 13 (4), pp. 335-344. Date of Electronic Publication: 2023 Aug 08 (Print Publication: 2024).