نتایج جستجو برای: harlequin ichthyois
تعداد نتایج: 631 فیلتر نتایج به سال:
This video and article are inspired by Robert Schumann’s use of characterization in his music writings, the affinities these sometimes kaleidoscopic multiple musical critical perspectives with theatre, fragmentary scenographies, costume. Drawing on traits own characters Florestan, Euesbius, Master Raro, as well other personas such Harlequin Pierrot, I have aimed, my audiovisual collage performa...
A female baby who was born by normal vaginal delivery with a birth weight of 2 600 g at the 34th gestational age as the third living baby from the fifth pregnancy of a 32-year old woman was admitted to the neonatal intensive care unit. No consanguineous marriage was reported in the familial history. It was learned that the patient had a healthy brother and a sister, but her two sisters were los...
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models o...
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