نتایج جستجو برای: harlequin fetus

تعداد نتایج: 26697  

Journal: :Ultrasound in Obstetrics and Gynecology 2007

Journal: :Intonations 2023

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...

Journal: :Acibadem Universitesi Saglik Bilimleri Dergisi 2019

Journal: :Indian Journal of Paediatric Dermatology 2016

Journal: :Neurología (English Edition) 2015

Journal: :Turk pediatri arsivi 2014
Mehmet Tekin Çapan Konca Zelal Kahramaner Aydın Erdemir

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...

2016
Lei Zhang Michael Ferreyros Weiguo Feng Melanie Hupe Debra A Crumrine Jiang Chen Peter M Elias Walter M Holleran Lee Niswander Daniel Hohl Trevor Williams Enrique C Torchia Dennis R Roop

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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