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

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

由于细胞质轴丝动力蛋白组装因子 PIH1D3 突变导致的 X 连锁原发性纤毛运动障碍

Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J Williams, Cara K Vaughan, Jane Hayward, Alice Goldenberg, Richard D Emes, Mustafa M Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Luci

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

多学科工作组在孟德尔遗传病外显子组测序方面的经验

Fokstuen, S; Makrythanasis, P; Hammar, E; Guipponi, M; Ranza, E; Varvagiannis, K; Santoni, F A; Albarca-Aguilera, M; Poleggi, M E; Couchepin, F; Brockmann, C; Mauron, A; Hurst, S A; Moret, C; Gehrig, C; Vannier, A; Bevillard, J; Araud, T; Gimelli, S; Stathaki, E; Paoloni-Giacobino, A; Bottani, A; Sloan-Béna, F; Sizonenko, L D'Amato; Mostafavi, M; Hamamy, H; Nouspikel, T; Blouin, J L; Antonarakis, S E

Next generation diagnostics on cardiomyopathy

下一代心肌病诊断技术

Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Antonarakis, Stylianos E; Fokstuen, Siv

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

ZMYND10基因是人类和果蝇轴丝内、外动力蛋白臂正确组装所必需的基因,该基因的突变会导致原发性纤毛运动障碍。

Moore, Daniel J; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A; zur Lage, Petra I; de Castro, Sandra C; Bartoloni, Lucia; Gallone, Giuseppe; Petridi, Stavroula; Woollard, Wesley J; Antony, Dinu; Schmidts, Miriam; Didonna, Teresa; Makrythanasis, Periklis; Bevillard, Jeremy; Mongan, Nigel P; Djakow, Jana; Pals, Gerard; Lucas, Jane S; Marthin, June K; Nielsen, Kim G; Santoni, Federico; Guipponi, Michel; Hogg, Claire; Antonarakis, Stylianos E; Emes, Richard D; Chung, Eddie M K; Greene, Nicholas D E; Blouin, Jean-Louis; Jarman, Andrew P; Mitchison, Hannah M