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

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France

法国5α-还原酶2型和17β-羟类固醇脱氢酶3型缺乏症临床管理的变化

Bonnet, Estelle; Winter, Mathias; Mallet, Delphine; Plotton, Ingrid; Bouvattier, Claire; Cartigny, Maryse; Martinerie, Laetiti; Polak, Michel; Bachelot, Anne; Huet, Frédéric; Baron, Sabine; Houang, Muriel; Soskin, Sylvie; Lienhardt, Anne; Bertherat, Jérôme; Amouroux, Cyril; Bouty, Aurore; Duranteau, Lise; Besson, Rémi; El Ghoneimi, Alaa; Samara-Boustani, Dinane; Becmeur, François; Kalfa, Nicolas; Paris, Françoise; Medjkane, François; Brac de la Perrière, Aude; Bretones, Patricia; Lejeune, Hervé; Nicolino, Marc; Mouriquand, Pierre; Gorduza, Daniela-Brindusa; Gay, Claire-Lise

Early detection of ureteropelvic junction obstruction in neonates with prenatal diagnosis of renal pelvis dilatation using (1)H NMR urinary metabolomics

利用 (1)H NMR 尿液代谢组学早期检测产前诊断为肾盂扩张的新生儿输尿管肾盂交界处梗阻

Scalabre, Aurélien; Clément, Yohann; Guillière, Florence; Ayciriex, Sophie; Gaillard, Ségolène; Demède, Delphine; Bouty, Aurore; Lanteri, Pierre; Mure, Pierre-Yves

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias

两对同卵双胞胎尿道下裂患儿骨形态发生蛋白 7 前结构域中两个新变异的功能特征

Aurore Bouty, Kelly Walton, Nurin Aisyiyah Listyasari, Gorjana Robevska, Jocelyn Van den Bergen, Ardy Santosa, Sultana M H Faradz, Craig Harrison, Katie L Ayers, Andrew H Sinclair

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

在印度尼西亚一组46,XY男性化不足的男孩中,发现了先天性促性腺激素低下性性腺功能减退症基因的变异。

Ayers, Katie L; Bouty, Aurore; Robevska, Gorjana; van den Bergen, Jocelyn A; Juniarto, Achmad Zulfa; Listyasari, Nurin Aisyiyah; Sinclair, Andrew H; Faradz, Sultana M H