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

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings

两名兄弟姐妹因携带新的GNRH1变异而患有嗅觉正常的特发性低促性腺激素性性腺功能减退症

Sagi, Satyanarayana V; Joshi, Hareesh; Whiles, Emily; Hikmat, Mondy; Puthi, Vijith R; MacDougall, Jane; Spiden, Sarah L; Fuller, Gavin; Park, Soo-Mi; Oyibo, Samson O

PI3K class II α: a novel regulator of vesicular trafficking at the base of the primary cilium

PI3K II类α:初级纤毛基部囊泡运输的新型调节因子

Meeks, M; Walne, A; Spiden, S; Simpson, H; Mussaffi-Georgy, H; Hamam, H D; Fehaid, E L; Cheehab, M; Al-Dabbagh, M; Polak-Charcon, S; Blau, H; O'Rawe, A; Mitchison, H M; Gardiner, R M; Chung, E; Collado-Hilly, M; Fisch, C; Desforges, B; Jerber, J; Combettes, L; Campillo, C; Dupuis-Williams, P; Trépout, S; Lemullois, M; Guichard, P; Koll, F; Aubusson-Fleury, A; Beisson, J; Cohen, J; Marco, S; Tassin, AM; Wann, AKT; Zuo, N; Haycraft, CJ; Jensen, CG; Poole, CA; McGlashan, SR; Knight, MM; Saunier, S; Bizet, AA; Silbermann, F; Filhol, E; Blisnick, T; Henneveu, A; Montenont, E; Perrault, I; Boyle-Feysot, C; Rozet, J-M; Bastin, P; Arts, HH; Antignac, C; Benmerah, AR; Franco, I; Gulluni, F; Costa, C; Margaria, JP; Campa, CC; De Luca, E; Monteyne, D; Pérez-Morga, D; Boletta, A; Ranghino, A; Merlo, GR; Hirsch, E

Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects

Mutanlallemand (mtl) 和 Belly Spot and Deafness (bsd) 是 Lmx1a 的两个新突变,可导致严重的耳蜗和前庭缺陷

Georg Steffes, Beatriz Lorente-Cánovas, Selina Pearson, Rachael H Brooker, Sarah Spiden, Amy E Kiernan, Jean-Louis Guénet, Karen P Steel

The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss

新型小鼠突变Oblivion使PMCA2泵失活并导致渐进性听力丧失

Sarah L Spiden, Mario Bortolozzi, Francesca Di Leva, Martin Hrabé de Angelis, Helmut Fuchs, Dmitry Lim, Saida Ortolano, Neil J Ingham, Marisa Brini, Ernesto Carafoli, Fabio Mammano, Karen P Steel

A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis

Sall4突变小鼠模型可用于研究Sall4在早期胚胎发育和器官发生中的作用。

Warren, Madhuri; Wang, Wei; Spiden, Sarah; Chen-Murchie, Dongrong; Tannahill, David; Steel, Karen P; Bradley, Allan