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

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

扩大TRPV6变异体与眼部异常相关的产前表型谱

Leyne, Edouard; Martinovic, Jelena; Kamenický, Peter; Linglart, Agnès; Saada, Julien; Benachi, Alexandra; Vivanti, Alexandre J; Bouligand, Jérôme

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

产前诊断孤立性双侧马蹄内翻足:是否需要进行羊膜穿刺术?

Leyne, Edouard; Anselem, Olivia; Jordan, Pénélope; Vivanti, Alexandre J; Benachi, Alexandra; Salomon, Laurent; Jacquier, Mathilde; Jouannic, Jean-Marie; Dhombres, Ferdinand; Cambier, Tatiana; Rosenblatt, Jonathan; Pannier, Emmanuelle; Goffinet, François; Tsatsaris, Vassilis; Athiel, Yoann

Specific correction of a splice defect in brain by nutritional supplementation

通过营养补充特异性纠正大脑中的剪接缺陷

Shetty, Ranjit S; Gallagher, Cary S; Chen, Yei-Tsung; Hims, Matthew M; Mull, James; Leyne, Maire; Pickel, James; Kwok, David; Slaugenhaupt, Susan A

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP

小鼠 Ikbkap(延伸因子的一个亚基)的缺失会导致转录缺陷和胚胎致死,而人 IKBKAP 可以挽救这一缺陷。

Chen, Yei-Tsung; Hims, Matthew M; Shetty, Ranjit S; Mull, James; Liu, Lijuan; Leyne, Maire; Slaugenhaupt, Susan A

Effect of schooling in auditory lexical decision

教育对听觉词汇判断的影响

Naito, Fernanda; Uessugue, Vivian Leyne; Cabral, Renata Amparado; Radanovic, Márcia; Mansur, Letícia Lessa

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

IKBKAP基因剪接突变的组织特异性表达导致家族性自主神经功能障碍

Slaugenhaupt, S A; Blumenfeld, A; Gill, S P; Leyne, M; Mull, J; Cuajungco, M P; Liebert, C B; Chadwick, B; Idelson, M; Reznik, L; Robbins, C; Makalowska, I; Brownstein, M; Krappmann, D; Scheidereit, C; Maayan, C; Axelrod, F B; Gusella, J F

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

对人类9q31染色体上的家族性自主神经功能障碍基因进行精确的基因定位和单倍型分析

Blumenfeld, A; Slaugenhaupt, S A; Liebert, C B; Temper, V; Maayan, C; Gill, S; Lucente, D E; Idelson, M; MacCormack, K; Monahan, M A; Mull, J; Leyne, M; Mendillo, M; Schiripo, T; Mishori, E; Breakefield, X; Axelrod, F B; Gusella, J F