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 von Safka Brozkova, Dana, Poisson Marková, Simona, Mészárosová, Anna Uhrová, Jenčík, Ján, Čejnová, Vlasta, Čada, Zdeněk, Laštůvková, Jana, Rašková, Dagmar, Seeman, Pavel

Volltext

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy von Borgulová, Irena, Soldatova, Inna, Putzová, Martina, Malíková, Marcela, Neupauerová, Jana, Marková, Simona Poisson, Trková, Marie, Seeman, Pavel

Volltext

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene von Čada, Zdeněk, Šafka Brožková, Dana, Balatková, Zuzana, Plevová, Pavlína, Rašková, Dagmar, Laštůvková, Jana, Černý, Rudolf, Bandúrová, Veronika, Koucký, Vladimír, Hrubá, Silvie, Komarc, Martin, Jenčík, Ján, Poisson Marková, Simona, Plzák, Jan, Kluh, Jan, Seeman, Pavel

Volltext

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population von Marková, Simona Poisson, Brožková, Dana Šafka, Laššuthová, Petra, Mészárosová, Anna, Krůtová, Marcela, Neupauerová, Jana, Rašková, Dagmar, Trková, Marie, Staněk, David, Seeman, Pavel

Volltext