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

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia

增强超声表型分析对提高无创产前诊断(NIPD)软骨发育不全诊断率的价值

Verebi, Camille; Gravrand, Victor; Guerini, Claire; Anselem, Olivia; Vaucouleur, Nicolas; Boimard, Lucie Orhant; Ben Ouazzou, Rachida; Demirtas, Ceren; Leturcq, France; Bienvenu, Thierry; Tsatsaris, Vassilis; Pannier, Emmanuelle; Nectoux, Juliette

A family with Wagner syndrome with uveitis and a new versican mutation

一个患有瓦格纳综合征、葡萄膜炎和一种新的versican突变的家族

Rothschild, Pierre-Raphaël; Brézin, Antoine P; Nedelec, Brigitte; Burin des Roziers, Cyril; Ghiotti, Tiffany; Orhant, Lucie; Boimard, Mathieu; Valleix, Sophie

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

TGFBI p.Leu509Pro、p.Leu509Arg、p.Val613Gly 的基因型-表型相关性以及 p.Met502Val-p.Arg555Gln 突变的等位基因关联

Niel-Butschi, Florence; Kantelip, Bernadette; Iwaszkiewicz, Justyna; Zoete, Vincent; Boimard, Mathieu; Delpech, Marc; Bourges, Jean-Louis; Renard, Gilles; D'Hermies, François; Pisella, Pierre-Jean; Hamel, Christian; Delbosc, Bernard; Valleix, Sophie