CASE REPORT: WHOLE EXOME SEQUENCING REVEALS A NOVEL FRAMESHIFT DELETION MUTATION P.G2254FS IN COL7A1 ASSOCIATED WITH AUTOSOMAL RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA [VERSION 2; REFEREES: 2 APPROVED, 1 APPROVED WITH RESERVATIONS]

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder.It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma.The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy.DEB can

Sight distance is key to ensure safe road geometric design under all circumstances.Road design standards propose models simulating nighttime driving that contemplate the features of vehicle frontlighting systems to address the design of sag curves.These RELAX models are based on a deterministic approach, which is known to present a number of drawba

Phalaenopsis is one of the most interesting genera of orchids due to the members are often used as parents to produce hybrids.The establishment and development of highly reliable and discriminatory methods for identifying species and cultivars has become increasingly Girls Fall Formal Dress more important to plant breeders and members of the nurser

Children Food Items have more difficulty perceiving speech in noise than adults.Whether this difficulty relates to an immature processing of prosodic or linguistic elements of the attended speech is still unclear.To address the impact of noise on linguistic processing per se, we assessed how babble noise impacts the cortical tracking of intelligibl

Companies are not only organizations pursuing profit, but they are also a key economic agent that, in different contexts, must provide society with basic goods and services to satisfy its needs.In the case of Ukraine, the war situation happened since February 2022 makes the situation of domestic enterprises difficult, as they must now adapt to the