Search Results - "Byckova, Jekaterina"

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report by Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

“…CHARGE syndrome (MIM# 214800)-which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart…”
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Social Inequalities in Health: Outcomes of Children’s Cochlear Implantation in Lithuania by Stumbrys, Daumantas, Byčkova, Jekaterina, Lesinskas, Eugenijus, Mataitytė-Diržienė, Jurga, Norkūnienė, Jolita

“…The aim of this study was to evaluate the demographic, family, and educational differences in children’s speech perception development after cochlear (hearing)…”
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Evaluation of quality of life after paediatric cochlear implantation by Byčkova, Jekaterina, Simonavičienė, Justė, Mickevičienė, Vaiva, Lesinskas, Eugenijus

“…Cochlear implantation (CI) is the main treatment method for deaf children. CI influences not only communication, but also psychosocial outcomes in children…”
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Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified by Mikstiene, Violeta, Songailiene, Jurgita, Byckova, Jekaterina, Rutkauskiene, Giedre, Jasinskiene, Edita, Verkauskiene, Rasa, Lesinskas, Eugenijus, Utkus, Algirdas

“…Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three…”
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Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users by Byckova, Jekaterina, Mikstiene, Violeta, Kiveryte, Silvija, Mickeviciene, Vaiva, Gromova, Margarita, Cernyte, Gabriele, Mataityte-Dirziene, Jurga, Stumbrys, Daumantas, Utkus, Algirdas, Lesinskas, Eugenijus

“…Congenital sensorineural hearing loss is a heterogeneous disorder; its etiological profile varies between populations. Pathogenic variants of GJB2 gene are the…”
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Kochlearinė implantacija Lietuvoje: paplitimas ir sistemos apžvalga by Mataitytė - Diržienė, Jurga, Stumbrys, Daumantas, Byčkova, Jekaterina, Lesinskas, Eugenijus

“…[straipsnis, santrauka, reikšminiai žodžiai lietuvių kalba; santrauka ir reikšminiai žodžiai anglų kalba] Anksčiau atliktų tyrimų rezultatai rodo, kad…”
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The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population by Mikstiene, Violeta, Jakaitiene, Audrone, Byckova, Jekaterina, Gradauskiene, Egle, Preiksaitiene, Egle, Burnyte, Birute, Tumiene, Birute, Matuleviciene, Ausra, Ambrozaityte, Laima, Uktveryte, Ingrida, Domarkiene, Ingrida, Rancelis, Tautvydas, Cimbalistiene, Loreta, Lesinskas, Eugenijus, Kucinskas, Vaidutis, Utkus, Algirdas

“…Congenital hearing loss (CHL) is diagnosed in 1 - 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries…”
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