Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the
world's population. There has been an exponential increase in the identification of genes …

This study identifies the genetic background of familial hypercholesterolemia (FH) patients in
Romania and evaluates the association between mutations and cardiovascular events. We …

Background: The GJB2 gene is the most common deafness gene, and epidemic
characteristics have obvious racial specificity. Our study aimed to investigate the prevalence …

The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are
heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and …

Aim. To study the effectiveness of cochlear implantation in deaf children with gene mutation.
Method. 420 children from three medical centers with cochlear implants were selected …

Immune thrombocytopenic purpura (ITP) is the most frequent form of autoimmune disease in
childhood, characterized by thrombocytopenia (platelet count< 150· 10 9/L) with otherwise …

The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are
heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and …

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving structures
derived from the first and second pharyngeal arches. The phenotype is clinically …

Untitled Page 1 1 Page 2 2 GROUPE DE TRAVAIL Président d’honneur Ghazi Besbes (Professeur
en ORL et Chirurgie Cervico-Faciale, Secteur privé Tunis) Présidente Bouthaina Hammami (Professeur …

Introduction/Objective. Hearing impairment is the most common sensorineural disorder with
an incidence of 1/700–1000 newborns. Variants in the GJB2 gene are the major cause of …