[HTML][HTML] Monogenic causes of low-frequency non-syndromic hearing loss

NS Gan, D Oziębło, H Skarżyński… - Audiology and Neurotology, 2023 - karger.com
Background: Low-frequency non-syndromic hearing loss (LFNSHL) is a rare form of hearing
loss (HL). It is defined as HL at low frequencies (≤ 2,000 Hz) resulting in a characteristic …

Genome sequencing—do you know what you are getting into?

A McNeill - European Journal of Human Genetics, 2022 - nature.com
Various forms of documentation and “consent” forms are used to record evidence of
permission to undertake paediatric genome or exome sequencing. But how fully do parents …