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1.
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
Clin Genet
; 98(6): 548-554, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32860223
2.
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
Eur Arch Otorhinolaryngol
; 276(12): 3353-3358, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31552524
3.
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
Am J Med Genet A
; 170(7): 1843-8, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27256633
4.
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Genes (Basel)
; 12(5)2021 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34062854
5.
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
Ann Hum Genet
; 74(4): 299-307, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20597900
6.
Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.
Taiwan J Obstet Gynecol
; 57(5): 726-729, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30342660
7.
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
Genet Test Mol Biomarkers
; 22(2): 127-134, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29425068
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