Abstract The Russian Federation is the largest and one of the most ethnically diverse
countries in the world, however no centralized reference database of genetic variation exists …

Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary
significantly in different human populations. Investigation of the hereditary HL diversity and …

BACKGROUND/PURPOSE: Most reports about oculopharyngeal muscular dystrophy
(OPMD) have been contributed by occidental countries, and most of the victims of this …

Congenital autosomal recessive cataract with unknown genetic etiology is one of the most
common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia …

Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder
caused by c. 1492C> T (p. R498W) in the VPS33A gene. MPSPS is a severe disorder that …

Аннотация Впервые определена длина поколения у саха (якутов) в XVIII-XIX вв. на
основании анализа генеалогических данных 712 семей из Намского …

SOPH syndrome (Short stature with Optic nerve atrophy and Pelger–Huët anomaly
syndrome, OMIM# 614800) is an autosomal recessive hereditary disease characterized by …

Oculopharyngeal muscular dystrophy (OPMD) is a hereditary neuromuscular disease with
autosomal dominant and rarely with autosomal recessive inheritance types. This study …

Аннотация Генетические изоляты-особый тип популяций, которые на протяжении
многих веков держались обособленно, демонстрируя меньшую генетическую …

Multiple hereditary exostoses (MHE) is a genetically heterogeneous disease with an
autosomal dominant type of inheritance, a very large proportion of family cases. The …