Congenital deafness and recent advances towards restoring hearing loss
JM Renauld, ML Basch - Current protocols, 2021 - Wiley Online Library
Congenital hearing loss is the most common birth defect, estimated to affect 2‐3 in every
1000 births. Currently there is no cure for hearing loss. Treatment options are limited to …
1000 births. Currently there is no cure for hearing loss. Treatment options are limited to …
Improving the management of patients with hearing loss by the implementation of an NGS panel in clinical practice
G García-García, A Berzal-Serrano, P García-Díaz… - Genes, 2020 - mdpi.com
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic
hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was …
hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was …
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss
L Mansard, C Vaché, J Bianchi, C Baudoin, I Perthus… - Diagnostics, 2022 - mdpi.com
GSDME, also known as DFNA5, is a gene implicated in autosomal dominant nonsyndromic
hearing loss (ADNSHL), affecting, at first, the high frequencies with a subsequent …
hearing loss (ADNSHL), affecting, at first, the high frequencies with a subsequent …
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
Background Hereditary hearing loss is a rare hereditary condition that has a significant
presence in consanguineous populations. Despite its prevalence, hearing loss is marked by …
presence in consanguineous populations. Despite its prevalence, hearing loss is marked by …
[HTML][HTML] Automation of hybridization and capture based next generation sequencing library preparation requires reduction of on-deck bead binding and heated wash …
EZ Zuckerman, JA Thompson, AR Schneider… - SLAS technology, 2022 - Elsevier
Capture-based library preparation for next generation sequencing (NGS) offers a balance
between sequencing depth and bioinformatics cost of analysis. Liquid handling automation …
between sequencing depth and bioinformatics cost of analysis. Liquid handling automation …
Оптимизированный способ идентификации вариаций числа копий (CNV) в локусе STRC
ВГ Пшенникова, АМ Чердонова… - Медицинская …, 2024 - medgen-journal.ru
Аннотация Мутационные изменения гена STRC обуславливают аутосомно-
рецессивную форму потери слуха 16 типа (DFNB16), которая в большинстве случаев …
рецессивную форму потери слуха 16 типа (DFNB16), которая в большинстве случаев …