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

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

AFF3 不同变异体特异性的病理生理机制对转录组谱的影响各不相同。

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Jamra, Rami Abou; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Falkenberg Smeland, Marie; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; Mccormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpää, Maria K; Pohjola, Pia; Arikka, Harri; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss

新一代测序和动物模型揭示SLC9A3R1是与人类年龄相关性听力损失相关的新基因

Girotto, Giorgia; Morgan, Anna; Krishnamoorthy, Navaneethakrishnan; Cocca, Massimiliano; Brumat, Marco; Bassani, Sissy; La Bianca, Martina; Di Stazio, Mariateresa; Gasparini, Paolo