日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

一名患有小头畸形、癫痫和严重发育迟缓的婴儿,被诊断为14q部分单体,涉及FOXG1和NOVA1基因。

Fryssira, H; Tsoutsou, E; Psoni, S; Amenta, S; Liehr, T; Anastasakis, E; Skentou, Ch; Ntouflia, A; Papoulidis, I; Manolakos, E; Chaliasos, N

Dental abnormalities in Schimke immuno-osseous dysplasia.

Schimke 免疫骨发育不良的牙齿异常

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai K A, Fenkçi M S, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis D B, Massella L, McLeod D R, Milford D V, Nobili F, Olney A H, Semerci C N, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel C F

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

两种高通量检测技术可用于识别具有非典型缺失的威廉姆斯-伯伦综合征新患者。

Howald, C; Merla, G; Digilio, M C; Amenta, S; Lyle, R; Deutsch, S; Choudhury, U; Bottani, A; Antonarakis, S E; Fryssira, H; Dallapiccola, B; Reymond, A