First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test
Author:
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
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1. A novel method for detecting nine hotspot mutations of deafness genes in one tube;Scientific Reports;2024-01-03
2. Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis;Molecular Biology Reports;2019-02-07
3. Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss;Prenatal Diagnosis;2016-12
4. Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR;The Analyst;2016
5. Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family;International Journal of Pediatric Otorhinolaryngology;2014-04
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