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

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

对大量听力障碍患者进行外显子组变异优先排序表明,IKZF2 与非综合征性听力损失相关,并指导未来对未解决病例的研究

Velde Hedwig M, Vaseghi-Shanjani Maryam, Smits Jeroen J, Ramakrishnan Gayatri, Oostrik Jaap, Wesdorp Mieke, Astuti Galuh, Yntema Helger G, Hoefsloot Lies, Lanting Cris P, Huynen Martijn A, Lehman Anna, Turvey Stuart E, Pennings Ronald J E, Kremer Hannie

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

在荷兰,针对听力障碍基因panel进行全外显子组测序的诊断率

Zazo Seco, Celia; Wesdorp, Mieke; Feenstra, Ilse; Pfundt, Rolph; Hehir-Kwa, Jayne Y; Lelieveld, Stefan H; Castelein, Steven; Gilissen, Christian; de Wijs, Ilse J; Admiraal, Ronald Jc; Pennings, Ronald Je; Kunst, Henricus Pm; van de Kamp, Jiddeke M; Tamminga, Saskia; Houweling, Arjan C; Plomp, Astrid S; Maas, Saskia M; de Koning Gans, Pia Am; Kant, Sarina G; de Geus, Christa M; Frints, Suzanna Gm; Vanhoutte, Els K; van Dooren, Marieke F; van den Boogaard, Marie-José H; Scheffer, Hans; Nelen, Marcel; Kremer, Hannie; Hoefsloot, Lies; Schraders, Margit; Yntema, Helger G