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Article
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
Hereditary hearing impairment is a common sensory disorder that is genetically and phenotypically heterogeneous. In this study, we used a homozygosity map** and exome sequencing strategy to study a consangui...
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Article
Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes
Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malf...
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Article
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3
Osteogenesis imperfecta (OI) is a heritable bone fragility disorder usually caused by dominant variants in COL1A1 or COL1A2 genes. Over the last few years, 17 genes including 12 autosomal recessive and five autos...
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Article
Spectrofluorimetric Method for Quantification of Triazine Herbicides in Agricultural Matrices
A spectrofluorimetric method for determination of triazine herbicides was developed. The method involves reaction of ammonical 2-cyanoacetamide with the herbicide. The net fluorescent intensity (FI) of the pro...
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Article
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
Autosomal recessive forms of hair loss (alopecia) disorders have previously been associated with variants in at least five different genes including hairless (HR), desmoglein-4 (DSG4), desmocollin-3 (DSC3), lipas...
